1. Genes and Genomic Entities
  2. WDHD1

WDHD1

WD repeat and HMG-box DNA binding protein 1
OMIM: 608126, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber WDHD1 in Severe microcephaly


Level 2: Neurology
Version 8.46
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • microcephalic osteodysplastic primordial dwarfism, MONDO:0000060
Tags
  • Q2_26_promote_green
Amber WDHD1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.189
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • microcephalic osteodysplastic primordial dwarfism, MONDO:0000060
  • Intrauterine growth retardation, HP:0001511
Tags
  • Q2_26_promote_green