Unexplained kidney failure in young people
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
0 reviews
Details
- Sources
-
- Expert
- Expert Review Red
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 612013
- Clinvar variants
- Variants in CC2D2A
- Penetrance
- Complete
- Panels with this gene
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- Ocular coloboma
- Skeletal dysplasia
- Fetal anomalies
- Familial Neural Tube Defects
- Hydrocephalus
- Unexplained kidney failure in young people
- Ductal plate malformation
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Retinal disorders
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Clefting
- Structural eye disease
- VACTERL-like phenotypes
- Limb disorders
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Intellectual disability
- Polycystic liver disease
- Early onset or syndromic epilepsy
- COVID-19 research
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
History Filter Activity
17 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
16 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)CC2D2A was created by sleigh
16 May 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)CC2D2A was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Red