1. Genes and Genomic Entities
  2. WDR4

WDR4

WD repeat domain 4
OMIM: 605924, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green WDR4 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.88
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Galloway-Mowat syndrome 6, OMIM:61834
  • Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618347
Red WDR4 in DDG2P


Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • GALLOWAY-MOWAT SYNDROME 6, 618347
    Green WDR4 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.550
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Galloway-Mowat syndrome 6, OMIM:61834
    • Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618347
    Green WDR4 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microcephaly, growth deficiency, seizures, and brain malformations, 618346
    • Galloway-Mowat syndrome 6, 618347