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 13 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

Orofaciodigital syndrome XIV


Variants in this GENE are reported as part of current diagnostic practice

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


Penny Clouston (Oxford)

C2CD3 was created by PennyC