CHAF1A

chromatin assembly factor 1 subunit A
OMIM: 601246, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber CHAF1A in Congenital anomalies of the kidney and urinary tract (CAKUT)


Level 2: Renal and urinary tract disorders
Version 1.5

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Literature
    • Expert Review Amber
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • oculoauriculovertebral spectrum with radial defects MONDO:0007712, CHAF1A-related

    Green CHAF1A in Mendeliome


    Version 2.336

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • oculoauriculovertebral spectrum with radial defects MONDO:0007712, CHAF1A-related

    Green CHAF1A in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 1.6

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • oculoauriculovertebral spectrum with radial defects MONDO:0007712, CHAF1A-related

    Amber CHAF1A in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.2

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • oculoauriculovertebral spectrum with radial defects MONDO:0007712, CHAF1A-related