White matter disorders and cerebral calcification - narrow panel
Gene: OCLN

OCLN (occludin)
EnsemblGeneIds (GRCh38): ENSG00000197822
EnsemblGeneIds (GRCh37): ENSG00000197822
OMIM: 602876, Gene2Phenotype
OCLN is in 12 panels

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Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Severe developmental delay with microcephaly
Band-like calcification with simplified gyration and polymicrogyria
Band-like calcification with simplified gyration and polymicrogyria, 251290

OMIM

602876

Clinvar variants

Variants in OCLN

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: OCLN was added gene: OCLN was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OCLN were set to 24668585; 26689621; 23793442; 20727516 Phenotypes for gene: OCLN were set to Severe developmental delay with microcephaly; Band-like calcification with simplified gyration and polymicrogyria; Band-like calcification with simplified gyration and polymicrogyria, 251290