Hereditary ataxia with onset in adulthood
Gene: CCDC88C
On Oxford panel. Only 1 study of SCA40 listed on HGMD/OMIM.Created: 27 Apr 2019, 7:39 p.m.
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from London North GLH and Wessex and West Midlands GLH for GMS Neurology specialist test group for R54 agrees this gene should remain REDCreated: 19 Jun 2019, 4:55 p.m.
Review and rating submitted byJames Polke (London North GLH), on behalf of London North GLH for GMS Neurology specialist test groupCreated: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
AR variants also seen in congenital hydrocephalus 1 (not ataxic). Only a single missense variant in one family with SCA40 reported to date. Insufficient evidence - gnomAD not supportive of the p.Arg464His variant being pathogenicCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 40, 616053
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to CCDC88C.
Added phenotypes Spinocerebellar ataxia 40, 616053 for gene: CCDC88C
Source NHS GMS was added to CCDC88C.
Source Wessex and West Midlands GLH was added to CCDC88C.
Louise Daugherty: Comment on phenotypes: Implica
gene: CCDC88C was added gene: CCDC88C was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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 25062847 Phenotypes for gene: CCDC88C were set to autosomal dominant spinocerebellar ataxia Mode of pathogenicity for gene: CCDC88C was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments