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Genetic Epilepsy

Gene: CCDC88C

Green List (high evidence)

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

2 reviews

Rylee Peters (Victorian Clinical Genetics Services)

I don't know

PMID: 38173219 – Cohort of individuals with epilepsy. Identified novel CCDC88C variants, including two de novo missense and two biallelic variants, in four unrelated individuals with focal (partial) epilepsy. The two heterozygous variants were of de novo origin. The two pairs of compound heterozygous mutations were inherited from their asymptomatic parents. Patients with de novo variants presented with adult-onset epilepsy, whereas patients with biallelic variants displayed infant-onset epilepsy.
Created: 1 Feb 2024, 12:45 a.m. | Last Modified: 1 Feb 2024, 12:45 a.m.
Panel Version: 0.2198

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
monogenic epilepsy MONDO:0015653, CCDC88C-related

Publications

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

3 independant families with seizures reported as a feature, onset between birth and 2 years. Focal and tonic clonic. Summary table in PMID: 29341397.
Sources: Expert list
Created: 27 Dec 2023, 9:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydrocephalus, congenital, 1 MIM#236600

Publications

History Filter Activity

3 Jan 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc88c has been classified as Green List (High Evidence).

3 Jan 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc88c has been classified as Green List (High Evidence).

27 Dec 2023, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: CCDC88C was added gene: CCDC88C was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC88C were set to PMID: 29341397, PMID: 23042809, PMID: 21031079 Phenotypes for gene: CCDC88C were set to Hydrocephalus, congenital, 1 MIM#236600 Review for gene: CCDC88C was set to GREEN