Clefting
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
1 review
Louise Daugherty (Genomics England Curator)
Comment on list classification: more than three unrelated cases where clefting has been reported in patients with Meckel syndrome caused by a variant in CC2DACreated: 31 May 2017, 1:22 p.m.
Comment on publications: Tallila et al. (2008) PMID: 18513680. Clefting is noted as less common feature. In 11 unrelated FInnish cases studies clefting was recorded in two unrelated cases, however the remaining 7 cases in the cohort were not noted as clefting not being present, it was just not reported.
Mougou-Zerelli et al. (2009) PMID:19777577 MKS cohort is a large multiethnic series of 120 fetuses reports 4 unrelated cases where clefting is reported
Created: 31 May 2017, 1:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 6, 612284
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Meckel syndrome 6, 612284
- MKS6
- Meckel-Gruber syndrome
- OMIM
- 612013
- Clinvar variants
- Variants in CC2D2A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Retinal disorders
- 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
- DDG2P
- Ocular coloboma
- Clefting
- COVID-19 research
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 4
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
31 May 2017, Gel status: 0
Set publications
Louise Daugherty (Genomics England Curator)Publications for CC2D2A were set to 18513680;19777577
31 May 2017, Gel status: 0
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for CC2D2A were set to Meckel syndrome 6, 612284; MKS6; Meckel-Gruber syndrome
31 May 2017, Gel status: 0
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for CC2D2A were set to Meckel syndrome 6, 612284; MKS6
31 May 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)CC2D2A was added to Cleftingpanel. Sources: Expert list
31 May 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)CC2D2A was created by LouiseD