CCDC32

coiled-coil domain containing 32
Gene2Phenotype

5 panels

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


Level 2: Respiratory
Version 5.3
Latest signed off version: v5.2 (12 Aug 2026)

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


Level 2: Fetal (including NIPD)
Version 8.4
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cardiofacioneurodevelopmental syndrome, OMIM:619123
Tags
  • gene-checked
Green CCDC32 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

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


    Level 2: Developmental disorders
    Version 11.23
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • 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 1.182

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