CCDC32

coiled-coil domain containing 32
Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber CCDC32 in Laterality disorders and isomerism


Version 3.8
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Tags
  • watchlist
  • gene-checked
Green CCDC32 in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CCDC32-associated neurodevelopmental syndrome
    Tags
    • gene-checked
    Green CCDC32 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.453
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Cardiofacioneurodevelopmental syndrome, OMIM:619123
    • cardiofacioneurodevelopmental syndrome, MONDO:0030873
    Tags
    • gene-checked
    Green CCDC32 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.168

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cardiofacioneurodevelopmental syndrome, OMIM:619123
    • cardiofacioneurodevelopmental syndrome, MONDO:0030873
    Tags
    • gene-checked