- Dec 2022
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www.sciencedirect.com www.sciencedirect.com
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OMIM 612718
Case#: pt I, 21 y/o male
DiseaseAssertion: GAMT deficiency
FamilyInfo:non-consangeous parents of Yemenite Jewish descent
CasePresentingHPOs: expressive speech was delayed, reduced strength and stamina, delayed general cognitive function
CaseHPOFreeText: N/A
CaseNotHPOs:N/A
CaseNotHPOFreeText: N/A
Biochemical analyte testing: abnormal CK and EMG results
Brain Magnetic Resonance Spectroscopy (MRS): appeared normal
GAMT activity assay: N/A
Zygosity: autosomal recessive
Variant 1: OMIM 612718
ClinVarID: N/A
CAID: N/A
gnomAD: N/A
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academic.oup.com academic.oup.com
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OMIM 300352)
Case#: N/A
DiseaseAssertion: AGAT mutation
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
Biochemical analyte testing: N/A
Brain Magnetic Resonance Spectroscopy (MRS): N/A
GAMT activity assay: N/A
Zygosity: homozygous
Variant 1: OMIM 602360
ClinVarID: 8303
CAID: CA340769
gnomAD: N/A
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OMIM 601240
Case#: N/A
DiseaseAssertion: AGAT mutation
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
Biochemical analyte testing: N/A
Brain Magnetic Resonance Spectroscopy (MRS): N/A
GAMT activity assay: N/A
Zygosity: homozygous
Variant 1: OMIM 602360
ClinVarID: 8303
CAID: CA340769
gnomAD: N/A
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OMIM 602360
Case#: N/A
DiseaseAssertion: AGAT mutation
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
Biochemical analyte testing: N/A
Brain Magnetic Resonance Spectroscopy (MRS): N/A
GAMT activity assay: N/A
Zygosity: homozygous
Variant 1: OMIM 602360
ClinVarID: 8303
CAID: CA340769
gnomAD: N/A
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- May 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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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
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watermark.silverchair.com watermark.silverchair.com
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DICER1 syndrome is an autosomal-dominant,pleiotropic, tumor-predisposition disorder arisingfrom pathogenic germline variants in DICER1, whichencodes an endoribonuclease integral to processingmicroRNAs
DICER1 is the gene name. PubMed ID, HGCNCID, and Variant: I can't find Inheritance Pattern: autosomal-dominant The disease entity: DICER1 syndrome The type of mutation: germline. Zygosity: not known. Family Information: a family was used, DICER1 carriers, and non DICER1 variant used, some of the family members had tumors from DICER1 Case Information: mean age is 34, the range of age is 18.6 to 43 years, male, and female used, ethnicity can't find Case Presenting HPO: cancer testing, chemotherapy, radiotherapy gnomeAD: 9.2,8.3.2 Mutation type: Pleiotropic, loss of function, missense
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Embryonal rhabdomyosarcoma (ERMS) of the uterus has recently been shown to frequently harbor DICER1 mutations.
HGNCID:
Tags
- Disease Entity: Embryonal rhabdomyosarcoma (ERMS)
- Inheritance Pattern: Non- inheritance(DNA methylation)
- Variant: Clinvar ID not identified
- Mutation: c.4420A>G
- case mut: f 28-67
- Mutation: c.5428G>T
- Family Information: not identified
- PMID (PubMed ID): 33846547
- Zygosity: Some Cases displayed homozygosity
- GeneName: DICER1
- case wt: m&f 0.5-19
- Mutation: c.4267G>T
- Mutation: c.3580delA
- Mutation: c.5125G > A
- pathogenicity: only 2 of 17 patients died from disease
- Mutation: c.5438 A> C
- Mutation: c5113G>A
- Mutation: 5428 G>C
Annotators
URL
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- Apr 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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DICER1 syndrome is an autosomal-dominant, pleiotropic tumor-predisposition disorder
Gene Name:DICER1 PMID: 30715996 HGNCID: Not on document Inheritance Pattern: Autosomal Dominant Disease Entity: Pleiotropic Tumor-Predisposition Disorder Mutation: Pathogenic Germline Variants Zygosity: Not in document Variant: Not in document Family Information: An individual was found who had family members who were also affected by this mutation. Because of this, those family members were also chosen to participate in this study. Mutation Type: Missense Case: The study was done on more than one individual. Roughly more than half of the individuals were female
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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The DICER1 syndrome is an autosomal dominant tumor‐predisposi-tion disorder associated with pleuropulmonary blastoma, a rare pediatric lung cancer
GeneName:DICER1 PMID (PubMed ID): PMCID: PMC6418698 PMID: 30672147 HGNCID: NOT LISTED<br /> Inheritance Pattern: Autosomal Dominant Disease Entity: Cancer; benign and malignant tumors including pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumors, multinodular goiter, Thryoid cancer, rhabdomyosarcoma, and pineoblastoma. Mutation: Somatic missense variation Mutation type: missense Zygosity: None stated Variant: unregistered…. Family Information: Characterize germline variants in familial early-onset clorectal cancer patients; The observation of germline DICER1 variation with uterine corpus endometrial carcinoma merits additional investigation. CasePresentingHPOs: uterine and rectal cancers in germline mutation
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