Retinal disorders
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
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Ellen McDonagh (Genomics England Curator)
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:04 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- COACH syndrome, 216360
- Joubert syndrome 9, 612285
- Meckel syndrome 6, 612284
- Eye Disorders
- OMIM
- 612013
- Clinvar variants
- Variants in CC2D2A
- Penetrance
- Complete
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- VACTERL-like phenotypes
- Cholestasis
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Retinal disorders
- COVID-19 research
- Clefting
- Ocular coloboma
- Structural eye disease
- Intellectual disability
- Fetal anomalies
- DDG2P
- Hydrocephalus
- Familial Neural Tube Defects
- Ductal plate malformation
- Neurological ciliopathies
- Early onset or syndromic epilepsy
- Cystic kidney disease
- Renal ciliopathies
- Neonatal cholestasis
- Limb disorders
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
History Filter Activity
19 Nov 2019, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CC2D2A were changed from COACH syndrome; Joubert syndrome 9; Meckel syndrome 6; Eye Disorders to COACH syndrome, 216360; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284; Eye Disorders
3 Apr 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CC2D2A. Rating Changed from Green List (high evidence) to Green List (high evidence)
21 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CC2D2A was created by ellenmcdonagh
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)CC2D2A was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green