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Child

Malignant Hyperthermia Susceptibility

Posted on August 25, 2022

PMID Gene Reviews Entry: 20301325; Genes: RYR1, CACNA1S; Inheritance: AD; Typical Age at Onset: Child/Adult  

Posted in ACMG SF v2.0 Phenotypes, Adult, Child, Other Condition

Wilson Disease

Posted on August 25, 2022

PMID Gene Reviews Entry: 20301685; Genes: ATP7B; Inheritance: AR (recommend searching only for individuals with biallelic mutations); Typical Age at Onset: Child  

Posted in ACMG SF v2.0 Phenotypes, Child, Metabolic Condition

Hypertrophic cardiomyopathy, dilated cardiomyopathy

Posted on August 25, 2022

PMID Gene Reviews Entry: 20301725; Genes: MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, GLA, MYL2, LMNA; Inheritance: MYBPC3 & MYL2 – AD, GLA – XL; Typical Age at Onset: Child/Adult  

Posted in ACMG SF v2.0 Phenotypes, Adult, Child, Heart Condition

Ehlers-Danlos syndrome, vascular type

Posted on August 25, 2022

PMID Gene Reviews Entry: 20301667; Genes: COL3A1; Inheritance: AD; Typical Age at Onset: Child/Adult  

Posted in ACMG SF v2.0 Phenotypes, Adult, Child, Connective Tissue Disorder

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