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Genetic Epilepsy

Gene: CCDC22

Red List (low evidence)

CCDC22 (coiled-coil domain containing 22)
EnsemblGeneIds (GRCh38): ENSG00000101997
EnsemblGeneIds (GRCh37): ENSG00000101997
OMIM: 300859, Gene2Phenotype
CCDC22 is in 6 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities

Reviewed as on a research epilepsy gene list

PMID: 34020006 patient with epileptic encephalopathy but they had a missense variant VUS - segregated only in healthy mother and grandmother, no healthy males tested, maternal uncle deceased but wasn't tested. Didn't have the typical features of the condition (no posterior fossa anomalies or cardiac malformations).
Sources: Expert list
Created: 27 Dec 2023, 9:47 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Ritscher-Schinzel syndrome 2 MIM#300963

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Ritscher-Schinzel syndrome 2 MIM#300963
OMIM
300859
Clinvar variants
Variants in CCDC22
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc22 has been classified as Red List (Low Evidence).

3 Jan 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc22 has been classified as Red List (Low 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: CCDC22 was added gene: CCDC22 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CCDC22 were set to PMID: 34020006 Phenotypes for gene: CCDC22 were set to Ritscher-Schinzel syndrome 2 MIM#300963 Review for gene: CCDC22 was set to RED