ANKRD17

ankyrin repeat domain 17
OMIM: 615929, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ANKRD17 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Chopra-Amiel-Gordan syndrome, MIM# 619504
  • Intellectual disability
  • dysmorphic features

Green ANKRD17 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Chopra-Amiel-Gordan syndrome, MIM# 619504
    • Intellectual disability
    • dysmorphic features

    Green ANKRD17 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Research
    Phenotypes
    • Chopra-Amiel-Gordan syndrome, MIM# 619504
    • Intellectual disability
    • dysmorphic features

    Amber ANKRD17 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Chopra-Amiel-Gordan syndrome, MIM# 619504
    • Intellectual disability
    • dysmorphic features

    Green ANKRD17 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Chopra-Amiel-Gordon syndrome - MIM#619504
    • multiple congenital malformations