Hereditary ataxia with onset in adulthood

Gene: CCDC88C

Red List (low evidence)

On Oxford panel. Only 1 study of SCA40 listed on HGMD/OMIM.

Created: 27 Apr 2019, 7:39 p.m.

Red List (low evidence)

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 RED

Created: 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 group

Created: 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.

Red List (low evidence)

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 pathogenic

Created: 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