Glaucoma (developmental)
Gene: CC2D2A
CC2D2A (coiled-coil and C2 domain containing 2A)
EnsemblGeneIds (GRCh38): ENSG00000048342
EnsemblGeneIds (GRCh37): ENSG00000048342
OMIM: 612013, Gene2Phenotype
CC2D2A is in 28 panels
EnsemblGeneIds (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
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 612013
- Clinvar variants
- Variants in CC2D2A
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- VACTERL-like phenotypes
- Ophthalmological ciliopathies
- Cholestasis
- Retinal disorders
- Neurological ciliopathies
- Skeletal dysplasia
- Limb disorders
- COVID-19 research
- Dystonia, chorea or related movement disorder, childhood onset
- Clefting
- Ocular coloboma
- Polycystic liver disease
- Hydrocephalus
- Familial Neural Tube Defects
- Renal ciliopathies
- Unexplained kidney failure in young people
- Ductal plate malformation
- Fetal anomalies
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Early onset or syndromic epilepsy
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Cystic kidney disease
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)CC2D2A was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory