Structural eye disease
Gene: CC2D2AEnsemblGeneIds (GRCh38): ENSG00000048342
EnsemblGeneIds (GRCh37): ENSG00000048342
OMIM: 612013, Gene2Phenotype
CC2D2A is in 28 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
DB Gorden et al. 2008: 1 family with coloboma among others with Joubert syndrome/Doherty et al. 2010: 1 family with coloboma and COACH syndrome/Incecik et al. 2012 1 family with coloboma and Joubert syndromeCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome, 216360
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Gorden et al. 2008: 1 family with coloboma among others with Joubert syndrome/Doherty et al. 2010: 1 family with coloboma and COACH syndrome/Incecik et al. 2012 1 family with coloboma and Joubert syndromeCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome, 216360
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- COACH syndrome, 216360
- OMIM
- 612013
- Clinvar variants
- Variants in CC2D2A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Retinal disorders
- Familial Neural Tube Defects
- Hydrocephalus
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Neonatal cholestasis
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Cholestasis
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Early onset or syndromic epilepsy
- Limb disorders
- DDG2P
- Ocular coloboma
- Intellectual disability
- COVID-19 research
- Clefting
History Filter Activity
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CC2D2A. Added phenotypes COACH syndrome, 216360 for gene: CC2D2A
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CC2D2A was added gene: CC2D2A was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CC2D2A were set to 19574260 Phenotypes for gene: CC2D2A were set to COACH syndrome, 216360