WDHD1

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

3 panels

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


Level 2: Neurology
Version 8.53
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 6.198
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
Amber WDHD1 in Paediatric disorders - additional genes


Level 2: Developmental disorders
Version 7.49
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • microcephalic osteodysplastic primordial dwarfism, MONDO:0000060
    Tags
    • Q2_26_promote_green