Early onset or syndromic epilepsy
Gene: CC2D2A
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AR COACH syndrome (Mental retadation, ataxia due to cerebellar hypplasia and hepatic fibrosis, seizures less common (Brancati et al, 2009 - 14 families - 17% had seizures -thought to be a subtype of Joubert syndrome), AR Joubert syndrome 9 (some patients have seizures) and AR Meckel syndrome 6.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome 216360; Joubert syndrome, 612285; Meckel syndrome, 612284
Publications
Comment when marking as ready: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene for all of the associated phenotypes. At least 8 variants reported in unrelated cases of Joubert syndrome 9 612285 and one case of COACH syndrome 216360 displaying seizures as part of the overall phenotype.Created: 26 Sep 2018, 12:28 p.m.
Comment on phenotypes: Variants also reported in Meckel syndrome 6 612284Created: 26 Sep 2018, 11:46 a.m.
Seizures are a reported feature of CC2D2A-related Joubert syndrome and COACH syndrome.Created: 10 Aug 2018, 4:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert/COACH syndromes
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to CC2D2A.
Source NHS GMS was added to CC2D2A.
Zornitza Stark: Seizures are a reported featur
Gene: cc2d2a has been classified as Green List (High Evidence).
Gene: cc2d2a has been classified as Green List (High Evidence).
Publications for gene: CC2D2A were set to 22241855; 19574260
Publications for gene: CC2D2A were set to 22241855; 19574260
Publications for gene: CC2D2A were set to
Phenotypes for gene: CC2D2A were changed from to COACH syndrome 216360; Joubert syndrome 9 612285
Mode of inheritance for gene: CC2D2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to CC2D2A. Panel: Genetic Epilepsy Syndromes
CC2D2A was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
CC2D2A was created by Sarah Leigh