Genetic Epilepsy
Gene: OCLN

OCLN (occludin)
EnsemblGeneIds (GRCh38): ENSG00000197822
EnsemblGeneIds (GRCh37): ENSG00000197822
OMIM: 602876, Gene2Phenotype
OCLN is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, simplified gyration and polymicrogyria, and severe developmental delay. More than 20 unrelated families reported.
Created: 10 Nov 2020, 9:47 a.m. | Last Modified: 10 Nov 2020, 9:47 a.m.

Panel Version: 0.5344

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudo-TORCH syndrome 1, MIM#251290

Publications

Created: 10 Nov 2020, 9:47 a.m.
Last Modified: 10 Nov 2020, 9:47 a.m.
Panel version: Imported from Mendeliome panel version 0.5344

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship
Victorian Clinical Genetics Services

Phenotypes

Pseudo-TORCH syndrome 1, MIM#251290

OMIM

602876

Clinvar variants

Variants in OCLN

Penetrance

None

Publications

Panels with this gene