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Prepair 1000+

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

1 review

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.
Hydrocephalus and seizures
Created: 12 Dec 2024, 2:49 a.m. | Last Modified: 12 Dec 2024, 2:49 a.m.
Panel Version: 1.716

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydrocephalus, congenital, 1 MIM#236600

Publications

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

12 Dec 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: CCDC88C were changed from Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3) to Hydrocephalus, congenital, 1 MIM#236600

12 Dec 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: CCDC88C were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3) for gene: CCDC88C

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CCDC88C was added gene: CCDC88C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)