Structural eye disease
Gene: CC2D2A
DB Gorden et al. 2008: 1 family with coloboma among others with Joubert syndrome/Doherty et al. 2010: 1 family with coloboma and COACH syndrome/Incecik et al. 2012 1 family with coloboma and Joubert syndromeCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome, 216360
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Gorden et al. 2008: 1 family with coloboma among others with Joubert syndrome/Doherty et al. 2010: 1 family with coloboma and COACH syndrome/Incecik et al. 2012 1 family with coloboma and Joubert syndromeCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome, 216360
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to CC2D2A. Added phenotypes COACH syndrome, 216360 for gene: CC2D2A
gene: CC2D2A was added gene: CC2D2A was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CC2D2A were set to 19574260 Phenotypes for gene: CC2D2A were set to COACH syndrome, 216360