22 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
    16
    1. ClingenBaseline 24 Oct 2026
      Table 2

      Case11a: Male, Sweden

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0001561, HP:0002804 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Polyhydramnios, Arthrogryposis)

      HPOsFreeText: N/A

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Deceased in 5 months

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant: NM_198271.4:c.1069G>T (p.Glu357Ter)

      ClinVar: 162219 https://www.ncbi.nlm.nih.gov/clinvar/variation/162219/

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    2. ClingenBaseline 23 Oct 2026
      Table 2

      Case8: Female, South America

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness)

      HPOsFreeText: N/A

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Deceased in neonatal period

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant1: NM_198271.4:c.723_733del (p.Asp242Glufs*4)

      CAID: CA2488932 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_198271.4%3Ac.723_733del

      gnomAD: Latino 2.896e-4, Overall 4.416e-5 https://gnomad.broadinstitute.org/variant/3-69168772-AAGCTCCCATCC-A

      Variant2: NM_198271.4:c.976G>C (p.Gly326Arg)

      CAID: CA353473660 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_198271.4%3Ac.976G%3EC

      gnomAD: Not in gnomAD

      Individual Variant GenotypingMethod CaseInfo inferred_gene_hgnc:6649 inferred_gene_source:CAID ClinGen Aminoacidopathy
    3. ClingenBaseline 23 Oct 2026
      Table 2

      Case9: Female, Italy

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0003798, HP:0001561, HP:0001558, HP:0000602, HP:0001622, HP:0001371 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Nemaline bodies, Polyhydramnios, Decreased fetal movements, Ophthalmoplegia, Preterm delivery, Contractures)

      HPOsFreeText: N/A

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Deceased in 4 months

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant: NM_198271.4:c.860delT (p.Phe287Serfs*3)

      CAID: CA913203455 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913203455

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:CAID ClinGen Aminoacidopathy
    4. ClingenBaseline 22 Oct 2026
      Table 2

      Case10: Male, Ecuador

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0001561, HP:0001558, HP:0000602, HP:0001622, HP:0001371, HP:0001623, HP:0002804 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Polyhydramnios, Decreased fetal movements, Ophthalmoplegia, Preterm delivery, Contractures, Breech presentation, Arthrogryposis)

      HPOsFreeText: Bilateral femoral fractures

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Deceased in 6 weeks

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant1: NM_198271.4:c.976G>C (p.Gly326Arg)

      CAID: CA353473660 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_198271.4%3Ac.976G%3EC

      gnomAD: Not in gnomAD

      Variant2: NM_198271.4:c.1372C>T (p.Gln458*)

      CAID: CA353470920 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_198271.4%3Ac.1372C%3ET

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:CAID ClinGen Aminoacidopathy
    5. ClingenBaseline 22 Oct 2026
      Table 2

      Case6: Female, Japan, Asian

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0003798, HP:0001561, HP:0001558, HP:0001789, HP:0000252, HP:0001622, HP:0001371 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Nemaline bodies, Polyhydramnios, Decreased fetal movement, Hydrops fetalis, Microcephaly, Preterm delivery, Contractures)

      HPOsFreeText: Atrophic myofibers

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Alive at 10 months

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant: NM_198271.4:c.349C>T (p.Gln117*)

      CAID: CA353477271 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_198271.4%3Ac.349C%3ET

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:CAID ClinGen Aminoacidopathy
    6. ClingenBaseline 22 Oct 2026
      Table 2

      Case3: Female, Portugal

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0002804, HP:0001558, HP:0001561, HP:0001371 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Decreased fetal movement, Polyhydramnios, Contracture)

      HPOsFreeText: N/A

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Deceased in neonatal period

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant: NM_198271.4:c.154del (p.Met52*)

      CAID: CA909810717 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_198271.4%3Ac.154delA

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:CAID ClinGen Aminoacidopathy
    7. ClingenBaseline 22 Oct 2026
      Table 2

      Case12a: Male, Afghanistan

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0002804, HP:0001558, HP:0001622, HP:0001623, HP:0003798 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Arthrogryposis, Decreased fetal movement, Preterm delivery, Breech presentation, Nemaline bodies)

      HPOsFreeText: Atrophic myofibers

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Deceased in 2 months, Has 2 siblings with same genotype/phenotype

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant: NM_198271.4:c.1099_1100delAA (p.Asn367Glnfs*11)

      ClinVar: 162218 https://www.ncbi.nlm.nih.gov/clinvar/variation/162218/

      gnomAD: South Asian 4.575e-4, Overall 5.625e-5 https://gnomad.broadinstitute.org/variant/3-69168405-GTT-G

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    8. ClingenBaseline 22 Oct 2026
      Table 2

      Case14a: Female, Australia

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0001561, HP:0001622, HP:0002804, HP:0003798, HP:0001558, HP:0000602 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Polyhydramnios, Nemaline bodies, Decreased fetal movements, Ophthalmoplegia)

      HPOsFreeText: Atrophic myofibers, Percutaneous endoscopic gastrostomy performed, Nocturnal noninvasive ventilation

      CaseNotHPOs: HP:0001627, HP:0002540 (Cardiac abnormality, Inability to walk)

      NotHPOsFreeText: N/A

      CaseAddInfo: Typical congenital nemaline myopathy, Alive at 10 yrs, Parents are not consanguineous

      CasePreviousTesting: N/A

      CaseGenotypingMethod: Linkage analysis combined with homozygosity mapping was used to identify candidate chromosomal loci. Whole exome sequencing in this family revealed likely pathogenic mutations in LMOD3 which agreed with the aforementioned analysis and was consistent with autosomal recessive inheritance.

      Variant1: NM_198271.4:c.1103_1105del (p.Asn368del)

      ClinVar: 162216 https://www.ncbi.nlm.nih.gov/clinvar/variation/162216/

      gnomAD: Not in gnomAD

      Variant2: NM_198271.4:c.1201C>T (p.Arg401Ter)

      ClinVar: 162217 https://www.ncbi.nlm.nih.gov/clinvar/variation/162217/

      gnomAD: African 4.137e-5, Overall 7.135e-6 https://gnomad.broadinstitute.org/variant/3-69168305-G-A

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    9. ClingenBaseline 22 Oct 2026
      Table 2

      Case5: Female, Japan, Asian

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0003798, HP:0001561, HP:0001558, HP:0100309 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Nemaline bodies, Polyhydramnios, Decreased fetal movements, Subdural hemorrhage)

      HPOsFreeText: Atrophic myofibers

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Alive at 2 months

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant1: NM_198271.4:c.300_304delGACTC (p.Thr101Argfs*4)

      CAID: CA913203453 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913203453

      gnomAD: Not in gnomAD

      Variant1: NM_198271.4:c.601_602delGA (p.Asp201Glnfs*9)

      CAID: CA913203454 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913203454

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:CAID ClinGen Aminoacidopathy
    10. ClingenBaseline 21 Oct 2026
      Table 2

      Case2: Male, Belgium

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0002804, HP:0003798, HP:0001558, HP:0001623, HP:0000602 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Arthrogryposis, Decreased fetal movement, Breech presentation, Ophthalmoplegia)

      HPOsFreeText: N/A

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Deceased 10 months

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant: NM_198271.4(LMOD3):c.138dup (p.Ser47Glnfs)

      ClinVar: 162215 https://www.ncbi.nlm.nih.gov/clinvar/variation/162215/

      gnomAD: European (Non-Finnish) 8.879e-6, Overall 8.049e-6 https://gnomad.broadinstitute.org/variant/3-69171399-T-TG

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    11. ClingenBaseline 21 Oct 2026
      Table 2

      Case4: Male, Japan, Asian

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0003798 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Nemaline bodies)

      HPOsFreeText: Atrophic myofibers

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Alive at 4 months

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant: NM_198271.4:c.231G>A (p.Trp77*)

      CAID: CA353478954 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_198271.4%3Ac.231G%3EA

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:CAID ClinGen Aminoacidopathy
    12. ClingenBaseline 21 Oct 2026
      Table 2

      Case13a: Male, Pakistan

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0001623, HP:0001561, HP:0000602, HP:0002808 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Breech presentation, Polyhydramnios, Ophthalmoplegia, Kyphosis)

      HPOsFreeText: N/A

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Deceased in 3 months, Has a sibling with same genotype/phenotype

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant: NM_198271.4:c.1099_1100delAA (p.Asn367Glnfs*11)

      ClinVar: 162218 https://www.ncbi.nlm.nih.gov/clinvar/variation/162218/

      gnomAD: South Asian 4.575e-4, Overall 5.625e-5 https://gnomad.broadinstitute.org/variant/3-69168405-GTT-G

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    13. ClingenBaseline 21 Oct 2026
      Table 2

      Case1a: Female, Algeria

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0001561, HP:0001622, HP:0002804, HP:0003798 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Polyhydramnios, Preterm delivery, Arthrogryposis, Nemaline bodies)

      HPOsFreeText: Bilateral femoral fractures, Atrophic myofibers

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Deceased in neonatal period, Parents are consanguineous

      CasePreviousTesting: N/A

      CaseGenotypingMethod: Linkage analysis combined with homozygosity mapping was used to identify candidate chromosomal loci. Whole exome sequencing in this family revealed likely pathogenic mutations in LMOD3 which agreed with the aforementioned analysis and was consistent with autosomal recessive inheritance.

      Variant: NM_198271.4(LMOD3):c.138dup (p.Ser47Glnfs)

      ClinVar: 162215 https://www.ncbi.nlm.nih.gov/clinvar/variation/162215/

      gnomAD: European (Non-Finnish) 8.879e-6, Overall 8.049e-6 https://gnomad.broadinstitute.org/variant/3-69171399-T-TG

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    14. ClingenBaseline 21 Oct 2026
      Table 2

      Case7: Female, Japan, Asian

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0003798, HP:0001561, HP:0001558, HP:0000602 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Nemaline bodies, Polyhydramnios, Decreased fetal movements, Ophthalmoplegia)

      HPOsFreeText: Atrophic myofibers

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Alive at 1 yr 7 months

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant1: NM_198271.4:c.349C>T (p.Gln117*)

      CAID: CA353477271 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_198271.4%3Ac.349C%3ET

      gnomAD: Not in gnomAD

      Variant2: NM_198271.4:c.1218delA (p.Lys406Asnfs*11)

      CAID: CA909806380 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_198271.4%3Ac.1218delA

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:CAID ClinGen Aminoacidopathy
    15. ClingenBaseline 21 Oct 2026
      Table 2

      Case11b: Male, Sweden

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness)

      HPOsFreeText: N/A

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Deceased in neonatal period

      CasePreviousTesting: N/A

      CaseGenotypingMethod: After LMOD3 was identified as a potential causal gene, bidirectional Sanger sequencing was performed on DNA in genetically unresolved patients using PCR amplification covering 3 exons.

      Variant: NM_198271.4:c.1069G>T (p.Glu357Ter)

      ClinVar: 162219 https://www.ncbi.nlm.nih.gov/clinvar/variation/162219/

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    16. ClingenBaseline 21 Oct 2026
      Table 2

      Case1b: Female, Algeria

      CasePresentingHPOs: HP:0001290, HP:0003324, HP:0002093, HP:0011968, HP:0001283, HP:0001622 (Generalized hypotonia, Generalized muscle weakness, Respiratory insufficiency, Feeding difficulties, Bulbar weakness, Preterm delivery)

      HPOsFreeText: N/A

      CaseNotHPOs: HP:0001627 (Cardiac abnormality)

      NotHPOsFreeText: N/A

      CaseAddInfo: Severe congenital myopathy, Deceased in neonatal period, Parents are consanguineous

      CasePreviousTesting: N/A

      CaseGenotypingMethod: Linkage analysis combined with homozygosity mapping was used to identify candidate chromosomal loci. Whole exome sequencing in this family revealed likely pathogenic mutations in LMOD3 which agreed with the aforementioned analysis and was consistent with autosomal recessive inheritance.

      Variant: NM_198271.4(LMOD3):c.138dup (p.Ser47Glnfs)

      ClinVar: 162215 https://www.ncbi.nlm.nih.gov/clinvar/variation/162215/

      gnomAD: European (Non-Finnish) 8.879e-6, Overall 8.049e-6 https://gnomad.broadinstitute.org/variant/3-69171399-T-TG

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    Visit annotations in context

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    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4347224/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Neonatal Fractures as a Presenting Feature of LMOD3-Associated Congenital Myopathy
    2
    1. ClingenBaseline 24 Oct 2026
      Proband II.1

      CaseII-2: Female, Turkey

      CasePresentingHPOs: HP:0001558, HP:0000337, HP:0045075, HP:0000463, HP:0000343, HP:0000278, HP:0000470, HP:0000767, HP:0002375, HP:0002033, HP:0006829 (Decreased fetal movement, Wide forehead, Sparse eyebrow, Anteverted nares, Long philtrum, Retrognathia, Short neck, Pectus excavatum, Decreased spontaneous movement, Poor suck, Severe muscular hypotonia)

      HPOsFreeText: Birth weight was 2050 g and length was 43 cm, Absent Moro reflex, Required ventilator support from birth

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo: Born with fractures of the right humerus and left femur

      CasePreviousTesting: N/A

      CaseGenotypingMethod: Whole blood smaples were obtained from the parents and the probands and DNA was extracted. WES was performed on II-2, with the results being sequenced and filtered for pathogenicity. Once the LMOD3 variant was detected, PCR amplification and Sanger sequencing was used to amplify exon 1 and confirm the results.

      Variant: NM_198271.4:c.138dup (p.Ser47Glnfs*13)

      ClinVar: 162215 https://www.ncbi.nlm.nih.gov/clinvar/variation/162215/

      gnomAD: European (Non-Finnish) 8.879e-6, Overall 8.049e-6 https://gnomad.broadinstitute.org/variant/3-69171399-T-TG

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    2. ClingenBaseline 23 Oct 2026
      Proband II.3

      CaseII-3: Female, Turkey

      CasePresentingHPOs: HP:0001561, HP:0001789, HP:0000494, HP:0000463, HP:0005280, HP:0011829, HP:0000319, HP:0002705, HP:0002033, HP:0006829, (Polyhydramnios, Hydrops fetalis, Downslanted palpebral fissures, Anteverted nares, Depressed nasal bridge, Thin philtrum, Smooth philtrum, High narrow palate, Poor suck, Severe muscular hypotonia,

      HPOsFreeText: Birth weight was 1890 g and length was 42 cm, Absent Moro reflex, Required ventilator support from birth

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo: Born with fractures of the left humerus and pes equinovarus

      CasePreviousTesting: N/A

      CaseGenotypingMethod: Whole blood smaples were obtained from the parents and the probands and DNA was extracted. WES was performed on II-2, with the results being sequenced and filtered for pathogenicity. Once the LMOD3 variant was detected, PCR amplification and Sanger sequencing was used to amplify exon 1 and confirm the results.

      Variant: NM_198271.4:c.138dup (p.Ser47Glnfs*13)

      ClinVar: 162215 https://www.ncbi.nlm.nih.gov/clinvar/variation/162215/

      gnomAD: European (Non-Finnish) 8.879e-6, Overall 8.049e-6 https://gnomad.broadinstitute.org/variant/3-69171399-T-TG

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq ClinGen Aminoacidopathy
    Visit annotations in context

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    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5603416/
  4. oce.ovid.com oce.ovid.com
    Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria | Ovid
    4
    1. ClingenBaseline 23 Oct 2026
      patient 1

      Case1: Female, Austria, 18 yrs report

      CasePresentingHPOs: HP:0010628, HP:0001558, HP:0002643, HP:0002015, HP:0040288, HP:0001260, HP:0003690, HP:0009046, HP:0003551, HP:0003798 (Facial weakness, Reduced fetal movement, Neonatal respiratory distress, Swallowing difficulties, Nasogastric tube feeding, Dysarthric speech, Limb weakness, Difficulty running, Difficulty climbing stairs, Nemaline bodies)

      HPOsFreeText: 4/5/7 Apgar score

      CaseNotHPOs: HP:0002015, HP:0002540, HP:0002650, HP:0002098 (Swallowing difficulties, Non-ambulatory, Scoliosis, Respiratory distress)

      NotHPOsFreeText: N/A

      CaseAddInfo: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: Whole exome sequencing of the proband revealed this homozygous LMOD3 mutation.

      Variant: NM_198271.4:c.1648C>T (p.Leu550Phe)

      ClinVar: 374498 https://www.ncbi.nlm.nih.gov/clinvar/variation/374498/

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq UNC Biocuration Core
    2. ClingenBaseline 22 Oct 2026
      4

      Case4: Female, Austria, 30 yrs report

      CasePresentingHPOs: HP:0010628, HP:0002015, HP:0040288, HP:0001260, HP:0003690 (Facial weakness, Swallowing difficulties, Nasogastric tube feeding, Dysarthric speech, Limb weakness)

      HPOsFreeText: 8/9/9 Apgar score

      CaseNotHPOs: HP:0002015, HP:0002540, , HP:0002098, HP:0002650 (Swallowing difficulties, Non-ambulatory, Respiratory distress, Scoliosis)

      NotHPOsFreeText: N/A

      CaseAddInfo: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: Next generation sequnecing-based panel analysis detected the below variants in LMOD3.

      Variant: NM_198271.4:c.1648C>T (p.Leu550Phe)

      ClinVar: 374498 https://www.ncbi.nlm.nih.gov/clinvar/variation/374498/

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq UNC Biocuration Core
    3. ClingenBaseline 21 Oct 2026
      Patient 2

      Case2: Female, Austria, 18 yrs report

      CasePresentingHPOs: HP:0010628, HP:0002643, HP:0002015, HP:0040288, HP:0001260, HP:0003690, HP:0003798, HP:0001511, HP:0001561, HP:0005216, HP:0002540, HP:0002650 (Facial weakness, Neonatal respiratory distress, Swallowing difficulties, Nasogastric tube feeding, Dysarthric speech, Limb weakness, Nemaline bodies, Intrauterine growth restriction, Polyhydramnios, Chewing difficulties, Non-ambulatory, Scoliosis)

      HPOsFreeText: 3/3/5 Apgar score

      CaseNotHPOs: HP:0002015 (Swallowing difficulties)

      NotHPOsFreeText: N/A

      CaseAddInfo: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: Whole exome sequencing of the proband revealed these homozygous LMOD3 mutations.

      Variant1: NM_198271.4:c.1648C>T (p.Leu550Phe)

      ClinVar: 374498 https://www.ncbi.nlm.nih.gov/clinvar/variation/374498/

      gnomAD: Not in gnomAD

      Variant2: NM_198271.4:c.1004A>G (p.Gln335Arg)

      ClinVar: 374499 https://www.ncbi.nlm.nih.gov/clinvar/variation/374499/

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq UNC Biocuration Core
    4. ClingenBaseline 21 Oct 2026
      Patients 3

      Case3: Male, Germany, 20 yrs report

      CasePresentingHPOs: HP:0010628, HP:0002015, HP:0040288, HP:0001260, HP:0003690, HP:0003798, HP:0002650 (Facial weakness, Swallowing difficulties, Nasogastric tube feeding, Dysarthric speech, Limb weakness, Nemaline bodies, Scoliosis)

      HPOsFreeText: 7/8/9 Apgar score

      CaseNotHPOs: HP:0002015, HP:0002540, , HP:0002098 (Swallowing difficulties, Non-ambulatory, Respiratory distress)

      NotHPOsFreeText: N/A

      CaseAddInfo: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: Next generation sequnecing-based panel analysis detected the below variants in LMOD3.

      Variant1: NM_198271.4:c.1648C>T (p.Leu550Phe)

      ClinVar: 374498 https://www.ncbi.nlm.nih.gov/clinvar/variation/374498/

      gnomAD: Not in gnomAD

      Variant2: NM_198271.4:c.1004A>G (p.Gln335Arg)

      ClinVar: 374499 https://www.ncbi.nlm.nih.gov/clinvar/variation/374499/

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod inferred_gene_hgnc:6649 inferred_gene_source:RefSeq UNC Biocuration Core
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