WDR59

WD repeat domain 59
OMIM: 617418, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber WDR59 in Cataract


Level 2: Ophthalmological disorders
Version 0.631

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254
Tags
  • founder

Amber WDR59 in Mendeliome


Version 1.4540

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254
Tags
  • founder

Amber WDR59 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.699

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254
Tags
  • founder

Amber WDR59 in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 0.224

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254
Tags
  • founder