This Panel is marked as Internal
Joubert syndrome
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
Penny Clouston (Oxford)
Positives within our diagnostic patient cohort. Evidence in literature.Created: 15 Mar 2016, 10:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Relevant phenotype and mode of inheritance was sourced from OMIM.Created: 8 Jan 2016, 11:36 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Other
- Eligibility statement prior genetic testing
- Phenotypes
-
- Joubert syndrome 9
- OMIM
- 612013
- Clinvar variants
- Variants in CC2D2A
- Penetrance
- Complete
- Panels with this gene
-
- Ocular coloboma
- Hydrocephalus
- Cholestasis
- Familial Neural Tube Defects
- Structural eye disease
- Retinal disorders
- Unexplained kidney failure in young people
- Ductal plate malformation
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Clefting
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Polycystic liver disease
- Fetal anomalies
- VACTERL-like phenotypes
- Skeletal dysplasia
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Limb disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- COVID-19 research
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
8 Jan 2016, Gel status: 0
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene CC2D2A were set to Joubert syndrome 9
8 Jan 2016, Gel status: 0
Upload gene information
Ellen McDonagh (Genomics England Curator)CC2D2A was added to Joubert syndromepanel. Sources: Other
8 Jan 2016, Gel status: 0
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene CC2D2A were set to Joubert syndrome 9; Meckel syndrome 6; COACH syndrome
8 Jan 2016, Gel status: 0
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
7 Jan 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CC2D2A was created by ellenmcdonagh
7 Jan 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CC2D2A was added to Joubert syndromepanel. Sources: Eligibility statement prior genetic testing