CLIC2

chloride intracellular channel 2
OMIM: 300138, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CLIC2 in Hydrocephalus


Version 2.2

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Mental retardation, X-linked, syndromic 32
Tags
  • watchlist

Red CLIC2 in DDG2P


Version 2.0

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • Mental retardation, X-linked, syndromic 32 300886

Red CLIC2 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Mental retardation, X-linked, syndromic 32, 300886