Hydrocephalus
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
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Above PMID reports 20 patients from 17 families. Higher proportion of ventriculomegaly and seizures in this genetic sub-group. Therefore appropriate for inclusion on hydrocephalus panel.Created: 7 Nov 2017, 1:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 9 612285
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Joubert syndrome 9, OMIM:612285
- OMIM
- 612013
- Clinvar variants
- Variants in CC2D2A
- Penetrance
- Complete
- 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
25 Mar 2021, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CC2D2A were changed from Joubert syndrome 9 612285 to Joubert syndrome 9, OMIM:612285
29 Jul 2019, Gel status: 3
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CC2D2A.
7 Nov 2017, Gel status: 3
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
7 Nov 2017, Gel status: 3
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
7 Nov 2017, Gel status: 1
Added New Source
Helen Brittain (Genomics England Curator)CC2D2A was added to Hydrocephalus panel. Sources: Literature
7 Nov 2017, Gel status: 1
Created
Helen Brittain (Genomics England Curator)CC2D2A was created by Helen Brittain