This Panel is marked as Deleted
Polydactyly Victorian Clinical Genetics Services
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
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Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 612013
- Clinvar variants
- Variants in CC2D2A
- Penetrance
- None
- Panels with this gene
-
- VACTERL-like phenotypes
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Retinal disorders
- DDG2P
- COVID-19 research
- Structural eye disease
- Limb disorders
- Ocular coloboma
- Cholestasis
- Hydrocephalus
- Intellectual disability
- Familial Neural Tube Defects
- Early onset or syndromic epilepsy
- Fetal anomalies
- Unexplained kidney failure in young people
- Ductal plate malformation
- Skeletal dysplasia
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Clefting
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)CC2D2A was added to Polydactyly Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)CC2D2A was created by Sarah Leigh