Adult onset neurodegenerative disorder
Gene: CCDC88C
Two families with dominant missense mutations associated with ataxia, parkinsonian syndrome, and cognitive impairmentCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
autosomal dominant spinocerebellar ataxia
Publications
Variants in this GENE are reported as part of current diagnostic practice
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 3:05 p.m.
1 family with SCA, missense variant segregates in 3 affected / 2 unaffected siblings & affected cousin(25062847).Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
autosomal dominant spinocerebellar ataxia
Phenotypes for gene: CCDC88C were changed from autosomal dominant spinocerebellar ataxia to ?Spinocerebellar ataxia 40, OMIM:616053
Source Expert Review Amber was added to CCDC88C. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Publications for gene CCDC88C were changed from PMID: 25062847 to 25062847; 30398676
Source Yorkshire and North East GLH was added to CCDC88C.
Source NHS GMS was added to CCDC88C.
Source South West GLH was added to CCDC88C.
Rebecca Foulger: Gene awaiting curator evaluati
gene: CCDC88C was added gene: CCDC88C was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: CCDC88C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCDC88C were set to PMID: 25062847 Phenotypes for gene: CCDC88C were set to autosomal dominant spinocerebellar ataxia