WDFY3

WD repeat and FYVE domain containing 3
OMIM: 617485, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green WDFY3 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.198

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 18, primary, autosomal dominant, MIM#617520

Amber WDFY3 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with macrocephaly

Green WDFY3 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 18, primary, autosomal dominant, MIM#617520
  • Neurodevelopmental disorder with macrocephaly

Green WDFY3 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Microcephaly 18, primary, autosomal dominant, MIM#617520

Red WDFY3 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, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Microcephaly 18, primary, autosomal dominant MIM#617520

    Green WDFY3 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
    • Genetic Health Queensland
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephaly 18, primary, autosomal dominant, MIM#617520