1. Genes and Genomic Entities
  2. CCDC22

CCDC22

coiled-coil domain containing 22
OMIM: 300859, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green CCDC22 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.185
Latest signed off version: v6.0 (30 Apr 2025)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Ritscher-Schinzel syndrome 2, OMIM:300963
Green CCDC22 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • SYNDROMIC X-LINKED INTELLECTUAL DISABILITY
    Green CCDC22 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • SYNDROMIC X-LINKED INTELLECTUAL DISABILITY