Ataxia - adult onset
Gene: CCDC88C
Heterozygous missense variant (gnomad: 1 het) reported in a 48-year-old Sudanese female presented with pure early onset hereditary spastic paraplegia. In contrast to previous reports, she developed neurological symptoms in early childhood and showed neither features of cerebellar ataxia, extrapyramidal signs, nor evidence of intellectual involvement. Functional studies showed the varaint induced JNK hyper-phosphorylation and enhanced apoptosis. 4 unaffected family members did not have the variant.
NB: Rated Amber as this phenotype appears to be sufficiently dissimilar to the 2 previously reported SCA families to not constitute a 3rd supporting report in that context. Gene remains Green for the AR ID phenotype.Created: 8 Apr 2021, 2:46 a.m. | Last Modified: 8 Apr 2021, 2:51 a.m.
Panel Version: 0.7056
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Eearly-onset pure hereditary spastic paraplegia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Three families for AR ID (green), amber for AD SCA (2 families only).Created: 27 Jan 2020, 5:27 a.m. | Last Modified: 27 Jan 2020, 5:27 a.m.
Panel Version: 0.982
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia 40, MIM#616053; Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
Publications
Variants in this GENE are reported as part of current diagnostic practice
Two families, no functional data.Created: 27 Dec 2019, 4:44 a.m. | Last Modified: 27 Dec 2019, 4:44 a.m.
Panel Version: 0.58
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 40, MIM#616053
Publications
Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
gene: CCDC88C was added gene: CCDC88C was added to Ataxia - adult onset_RMH. Sources: GeneReviews,Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: CCDC88C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCDC88C were set to 25062847; 30398676 Phenotypes for gene: CCDC88C were set to autosomal dominant spinocerebellar ataxia; ?Spinocerebellar ataxia 40, 616053