Thoracic dystrophies
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
Melita Irving (Guy's and St Thomas' NHS Trust)
Hannah Mitchison (UCL and GOSH)
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 612013
- Clinvar variants
- Variants in CC2D2A
- Penetrance
- Complete
- Panels with this gene
-
- Cystic kidney disease
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Limb disorders
- Early onset or syndromic epilepsy
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- VACTERL-like phenotypes
- Cholestasis
- Clefting
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- COVID-19 research
- Ocular coloboma
- Intellectual disability
- Skeletal dysplasia
- Retinal disorders
- Structural eye disease
- Neurological ciliopathies
- Hydrocephalus
- Fetal anomalies
- Familial Neural Tube Defects
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
6 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)CC2D2A was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory