Joubert syndrome

Gene: C2CD3

Red List (low evidence)

C2CD3 (C2 calcium dependent domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000168014
EnsemblGeneIds (GRCh37): ENSG00000168014
OMIM: 615944, Gene2Phenotype
C2CD3 is in 11 panels

1 review

Penny Clouston (Oxford)

Red List (low evidence)

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

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