13 Matching Annotations
  1. May 2022
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Hematologic indices in individuals with pathogenic germline DICER1 variants
    1
    1. emilymmeyers18 02 May 2022
      Pathogenic germline variants in DICER1 underlie an autosomal dominant, pleiotropic tumor-predisposition disorder.

      gene name: DICER 1 PMID (PubMed ID): 33570641 HGNCID: n/a Inheritance Pattern: autosomal dominant Disease Entity: benign and malignant tumor mutation Mutation: somatic Zygosity: heterozygous Variant: n/a Family Information: n/a Case: people of all sexes, ages, ethnicities and races participated CasePresentingHPOs: individuals with DICER1-associated tumors or pathogenic germline DICER1 variants were recruited to participate CasePreviousTesting: n/a gnomAD: n/a

      Gene: DICER 1 PMID: 33570641 Inheritance Pattern: autosomal dominant Disease Entity: benign and malignant tumor mutation Mutation: somatic Zygosity: heterozygous Variant: n/a HGNCID: n/a Family Information: n/a pleiotropic tumor-predisposition disorder
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    ncbi.nlm.nih.gov/pmc/articles/PMC7805337/
  3. Dec 2019
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    https://www.ncbi.nlm.nih.gov/clinvar/variation/545116/
    1
    1. may_flowers 19 Dec 2019

      variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/545116/

      ClinGen variantLookup variant:545116 variantLookup:family family:1 gene:NUP214
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    ncbi.nlm.nih.gov/clinvar/variation/545116/
  5. www.sciencedirect.com www.sciencedirect.com
    https://www.sciencedirect.com/science/article/pii/S0002929719301892
    7
    1. may_flowers 16 Dec 2019
      Myoclonic jerks

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001336

      ClinGen hpoLookup monarchLookup HP:0001336 hpoLookup:family family:1 gene:NUP214
    2. may_flowers 16 Dec 2019
      encephalopathy

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001298

      ClinGen hpoLookup monarchLookup HP:0001298 hpoLookup:family family:1 gene:NUP214
    3. may_flowers 16 Dec 2019
      Hyponatremia

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002902

      ClinGen hpoLookup monarchLookup HP:0002902 hpoLookup:family family:1 gene:NUP214
    4. may_flowers 16 Dec 2019
      Cerebellar atrophy

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001272

      ClinGen hpoLookup monarchLookup HP:0001272 hpoLookup:family family:1 gene:NUP214
    5. may_flowers 16 Dec 2019
      Progressive microcephaly

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0000253

      ClinGen hpoLookup monarchLookup HP:0000253 hpoLookup:family family:1 gene:NUP214
    6. may_flowers 16 Dec 2019
      Developmental regression

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0002376

      ClinGen hpoLookup monarchLookup HP:0002376 hpoLookup:family family:1 gene:NUP214
    7. may_flowers 16 Dec 2019
      Developmental delay

      Monarch lookup result: https://monarchinitiative.org/phenotype/HP:0001263

      ClinGen hpoLookup monarchLookup HP:0001263 hpoLookup:family family:1 gene:NUP214
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    sciencedirect.com/science/article/pii/S0002929719301892
  6. Sep 2019
  7. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
    2
    1. ppascual 16 Sep 2019

      variant id lookup result

      ClinGen variantLookup variant:495703 variantLookup:family family:1 gene:FBXO11
    2. ppascual 16 Sep 2019

      variant id lookup result

      ClinGen variantLookup variant:495703 variantLookup:family family:1 gene:FBXO11
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    ncbi.nlm.nih.gov/pmc/articles/PMC6080769/
  8. Aug 2019
  9. www.cell.com www.cell.com
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
    2
    1. megan_mayers 12 Aug 2019
      disproportionate stature

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0003498 phenotype:family family:1 gene:EXTL3
    2. megan_mayers 12 Aug 2019
      platyspondyly

      Monarch lookup result: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294674/#annotations:NNq7xL0dEemwJUvA1NrCBA

      ClinGen hpoLookup monarchLookup HP:0000926 phenotype:family family:1 gene:EXTL3
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    cell.com/ajhg/fulltext/S0002-9297(17)30013-7