Malformations of cortical development

Gene: OCLN

Green List (high evidence)

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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Not recognised on G2P but on UKGTN and mutations identified in six different families
Created: 19 Dec 2016, 12:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Band-like calcification with simplified gyration and polymicrogyria 251290

Publications

History Filter Activity

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

OCLN was created by agardham

19 Dec 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

OCLN was added to Malformations of cortical developmentpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen