1. Panels
  2. Ataxia - adult onset
  3. CCDC88C
Regions in panel
Prev Next

Ataxia - adult onset

Gene: CCDC88C

Amber List (moderate evidence)
CCDC88C (coiled-coil domain containing 88C)
EnsemblGeneIds (GRCh38): ENSG00000015133
EnsemblGeneIds (GRCh37): ENSG00000015133
OMIM: 611204, Gene2Phenotype
CCDC88C is in 13 panels

3 reviews

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

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

Created: 8 Apr 2021, 2:46 a.m.
Last Modified: 8 Apr 2021, 2:51 a.m.
Panel version: Imported from Mendeliome panel version 0.7056

Sebastian Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

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

Created: 27 Jan 2020, 5:27 a.m.
Last Modified: 27 Jan 2020, 5:27 a.m.
Panel version: Imported from Mendeliome panel version 0.982

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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

Created: 27 Dec 2019, 4:44 a.m.
Last Modified: 27 Dec 2019, 4:44 a.m.
Panel version: Imported from Ataxia_VCGS panel version 0.58

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • GeneReviews
  • Victorian Clinical Genetics Services
Phenotypes
  • autosomal dominant spinocerebellar ataxia
  • ?Spinocerebellar ataxia 40, 616053
OMIM
611204
Clinvar variants
Variants in CCDC88C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc88c has been classified as Amber List (Moderate Evidence).

19 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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