1. Genes and Genomic Entities
  2. WDFY3

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 0.36

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 5.7
Latest signed off version: v5.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • Other
Phenotypes
  • ?Microcephaly 18, primary, autosomal dominant, 617520
Green WDFY3 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • 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 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Microcephaly 18, primary, autosomal dominant, 617520