WDR44:Ensemblv115

WD repeat domain 44
OMIM: 301070, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green WDR44 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 1.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Ciliopathy, MONDO:0005308, WDR44-related

Green WDR44 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Ciliopathy, MONDO:0005308, WDR44-related

Green WDR44 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Ciliopathy, MONDO:0005308, WDR44-related

Green WDR44 in Fetal anomalies


Version 2.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Ciliopathy, MONDO:0005308, WDR44-related