Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: OCLN

Green List (high evidence)

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

5 reviews

Louise Daugherty (Genomics England Curator)

removed watch list tag - this gene is now considered Green
Created: 8 May 2018, 3:59 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green after clinical discussion following March 2017 OMIM updates: At least 3 unrelated cases of OCLN variants causing pseudo-TORCH syndrome-1, which includes a profound developmental delay phenotype.
Created: 16 May 2017, 7:12 a.m.
In 9 individuals from 6 families with pseudo-TORCH syndrome-1 (MIM:251290), O'Driscoll et al. (2010) identified homozygous or compound heterozygous mutations in the OCLN gene (including 2 Turkish sibs, 2 British sibs, and a Saudi-Arabian patient). Affected individuals had congenital microcephaly, intracranial calcifications, and severe developmental delay
Created: 16 May 2017, 7:10 a.m.
Comment on mode of inheritance: Biallelic mode of inheritance confirmed by OMIM.
Created: 11 May 2017, 11:40 a.m.

Ellen McDonagh (Genomics England Curator)

I added the 'watchlist' tag, as the gene is considered green on the Intracerebral calcification disorders gene panel, and includes severe developmental delay with microcephaly as a phenotype.
Created: 7 Dec 2016, 10:26 a.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pseudo-TORCH syndrome 1, 251290 (includes profound developmental delay)
  • Band-like calcification with simplified gyration and polymicrogyria
OMIM
602876
Clinvar variants
Variants in OCLN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

16 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

16 May 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for OCLN were set to 20727516

11 May 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for OCLN were set to Pseudo-TORCH syndrome 1, 251290 (includes profound developmental delay); Band-like calcification with simplified gyration and polymicrogyria

11 May 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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

11 May 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for OCLN were set to Pseudo-TORCH syndrome 1, 251290; Band-like calcification with simplified gyration and polymicrogyria

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

OCLN was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

OCLN was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen