WDR4

WD repeat domain 4
OMIM: 605924, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber WDR4 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.1
Signed off v.2.0 on 11 Dec 2019

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
Phenotypes
  • MPD
  • microcephalic primordial dwarfism

Red WDR4 in DDG2P


Version 2.3
Signed off v.2.2 on 13 Feb 2020

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

    Amber WDR4 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Primordial dwarfism
    • motor and speech delay
    • intellectual disability
    • global developmental delay.