Hereditary ataxia

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

2 reviews

emma baple (Genomics England Curator)

Comment when marking as ready: limited evidence
Created: 11 Jul 2016, 5:05 a.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Weak evidence in lit, single family. Mode of pathogenicity: Gain of function variants.
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
autosomal dominant spinocerebellar ataxia

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

Variants in this GENE are reported as part of current diagnostic practice

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
Complete
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

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

24 Nov 2015, Gel status: 0

Added New Source

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

CCDC88C was added to Hereditary ataxiapanel. Sources: Expert Review

24 Nov 2015, Gel status: 0

Created

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

CCDC88C was created by jonathan.williams