Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: CCDC88C

Red List (low evidence)

CCDC88C (coiled-coil domain containing 88C)
EnsemblGeneIds (GRCh38): ENSG00000015133
EnsemblGeneIds (GRCh37): ENSG00000015133
OMIM: 611204, Gene2Phenotype
CCDC88C is in 10 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • autosomal dominant spinocerebellar ataxia
OMIM
611204
Clinvar variants
Variants in CCDC88C
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CCDC88C was added gene: CCDC88C was added to Ataxia and cerebellar anomalies - narrow panel. 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 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