WDR44

WD repeat domain 44
ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

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


Level 2: Renal and urinary tract disorders
Version 0.201

Component of the following Super Panels:

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

    Green WDR44 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.99

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

    Green WDR44 in Mendeliome


    Version 1.4556

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

    Green WDR44 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.701

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

    Green WDR44 in Fetal anomalies


    Version 1.543

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