Neonatal cholestasis
Gene: CC2D2AEnsemblGeneIds (GRCh38): ENSG00000048342
EnsemblGeneIds (GRCh37): ENSG00000048342
OMIM: 612013, Gene2Phenotype
CC2D2A is in 28 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene for each phenotype. Numerous variants reported in unrelated cases.Created: 14 Aug 2018, 8:20 a.m.
Comment on phenotypes: All three phenotypes display liver featuresCreated: 14 Aug 2018, 8:16 a.m.
Comment on phenotypes: Variants also reported in Joubert syndrome 9 612285, but this phenotype is not relevant to the infantile cholestasis panelCreated: 14 Aug 2018, 8:03 a.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- COACH syndrome 216360
- Meckel syndrome 6 612284
- Joubert syndrome 9 612285
- OMIM
- 612013
- Clinvar variants
- Variants in CC2D2A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Familial Neural Tube Defects
- Hydrocephalus
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Cholestasis
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Ocular coloboma
- Clefting
- COVID-19 research
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: cc2d2a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: cc2d2a has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CC2D2A were set to COACH syndrome 216360; Meckel syndrome 6 612284; Joubert syndrome 9 612285
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CC2D2A were set to 19574260; 18950740; 27959436
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CC2D2A were set to COACH syndrome 216360; Meckel syndrome 6 612284
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: CC2D2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CC2D2A were set to COACH syndrome 216360; Meckel syndrome 6 612284
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to CC2D2A. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)CC2D2A was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)CC2D2A was created by Ellen McDonagh