WDFY3

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber WDFY3 in Autism


Version 0.22

review Not set
Sources
  • Expert Review Amber
  • SFARI

Red WDFY3 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.315
Latest signed off version: v2.2 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • Other
Phenotypes
  • ?Microcephaly 18, primary, autosomal dominant, 617520

Amber WDFY3 in DDG2P


Version 2.78
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • DD-Gene2Phenotype
    Phenotypes
    • Primary Microcephaly or macrocephaly with developmental delay

    Green WDFY3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Microcephaly 18, primary, autosomal dominant, 617520