This Panel is marked as Internal
Joubert syndrome
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
Penny Clouston (Oxford)
On current diagnostic panel; no positive families to date. Some evidence for literature, reported in OFD.Created: 15 Mar 2016, 1:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome XIV
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Orofaciodigital syndrome XIV
- OMIM
- 615944
- Clinvar variants
- Variants in C2CD3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Thoracic dystrophies
- Skeletal ciliopathies
- Renal ciliopathies
- Clefting
- Ductal plate malformation
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- Rare multisystem ciliopathy disorders
- Neurological ciliopathies
- Skeletal dysplasia
- Limb disorders
- Intellectual disability
- DDG2P
History Filter Activity
17 Nov 2016, Gel status: 0
Approved Gene
Alice Gardham (Genomics England)This proposed gene was validated and added to this panel
15 Mar 2016, Gel status: 0
Added New Source
Penny Clouston (Oxford)C2CD3 was added to Joubert syndromepanel. Sources: Expert Review
15 Mar 2016, Gel status: 0
Created
Penny Clouston (Oxford)C2CD3 was created by PennyC