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Genetic epilepsy syndromes

Gene: OCLN

Green List (high evidence)

OCLN (occludin)
EnsemblGeneIds (GRCh38): ENSG00000197822
EnsemblGeneIds (GRCh37): ENSG00000197822
OMIM: 602876, Gene2Phenotype
OCLN is in 11 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR pseudo-TORCH syndrome 1 (PTORCH1) - Neurological disorder with characteristic clinical and neuroradiologic features that mimic TORCH infection in the absence of evidence of infection. Aff individuals have congenital microcephayl, intracranial calcifications, severe develpmental delay, simplified gyration and polymicrogyria. Refractory seizures are a feature. O'Driscoll et al, 2010 - In 9 individuals from 6 families hom/compound het mutations in the OCLN gene. Microarray analysis identified hom deletions of copy no probes between exons 3 and 4 in aff individuals from 2 unrelated consang families. 5/6 families had deletions or variants affecting the Marvel domain - suggesting that the OCLN mutations result in a protein product that fails to locate to tight junctions in the cell membrane. Jenkinson et al, 2018 - 4 additional cases with novel OCLN mutations. Abdel-Hamid et al, 2017 - 13 new patients from 10 unrelated Egyptian families - identified 5 novel variants - all had seizures
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudo-TORCH syndrome, 251290

Publications

Eleanor Williams (Genomics England Curator)

Comment when marking as ready: Sufficient cases with variants in OCLN and seizures reported.
Created: 14 Nov 2018, 2:51 p.m.
Comment on list classification: More than 3 cases/variants reported in OCLN in patients with Pseudo-TORCH syndrome 1. At least 3 families with reports of seizures in newborns.
Created: 14 Nov 2018, 2:49 p.m.
Associated with Pseudo-TORCH syndrome 1 (a.k.a Band-like calcification with simplified gyration and
polymicrogyria (BLC-PMG)) in OMIM but not Gene2Phenotype.

OMIM reports that in 9 individuals from 6 families with pseudo-TORCH syndrome-1, O'Driscoll et al. (2010)(PMID: 20727516) identified homozygous or compound heterozygous mutations in the OCLN gene. 4 variants reported in OMIM. At least 4 of the patients from 3 families presented with seizures within 6 weeks after birth (the new cases reported in O'Driscoll).
Created: 14 Nov 2018, 2:45 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of this multi-system developmental disorder.
Created: 18 Aug 2018, 8:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudo-TORCH syndrome 1, MIM#251290

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to OCLN.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to OCLN.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

14 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

14 Nov 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: OCLN were changed from to Pseudo-TORCH syndrome 1 251290

14 Nov 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: OCLN were set to

14 Nov 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: OCLN was changed from to BIALLELIC, autosomal or pseudoautosomal

14 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to OCLN. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

OCLN was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

OCLN was created by Sarah Leigh