Clefting
Gene: C2CD3
C2CD3 (C2 calcium dependent domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000168014
EnsemblGeneIds (GRCh37): ENSG00000168014
OMIM: 615944, Gene2Phenotype
C2CD3 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000168014
EnsemblGeneIds (GRCh37): ENSG00000168014
OMIM: 615944, Gene2Phenotype
C2CD3 is in 13 panels
1 review
Helen Brittain (Genomics England Curator)
Only two cases reported but functional work in mice consistent with ciliopathy phenotype in loss of functionCreated: 26 May 2017, 7:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OROFACIODIGITAL SYNDROME XIV; OFD14
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- OROFACIODIGITAL SYNDROME XIV
- OFD14
- OMIM
- 615944
- Clinvar variants
- Variants in C2CD3
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic dystrophies
- Limb disorders
- Fetal anomalies
- Skeletal ciliopathies
- Intellectual disability
- Neurological ciliopathies
- Ductal plate malformation
- Skeletal dysplasia
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Clefting
- DDG2P
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
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)C2CD3 was added to Cleftingpanel. Sources: Expert Review Green
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)C2CD3 was created by ellenmcdonagh