WDR4

WD repeat domain 4
OMIM: 605924, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber WDR4 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.74

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

Amber WDR4 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1098

Component of the following Super Panels:

  • Paediatric disorders v4.354
  • White matter disorders - childhood onset v4.202
  • Hypotonic infant with a likely central cause v3.1022
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Primordial dwarfism
    • motor and speech delay
    • intellectual disability
    • global developmental delay.