Intracerebral calcification disorders

Gene: OCLN

Green List (high evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

The 'structural-variant' tag was added to capture the novel rearragement reported in PMID: 23793442: "Mutations in exon 3, or at the 5-6 intron splice site, of OCLN have been reported to cause brain calcification and polymicrogyria with no evidence of extra-cranial phenotypes. Of the OCLN splice variants described, all make use of exon 9, while OCLN variants that use exons 3, 5, and 6 are tissue specific. The genetic rearrangement we identified in exon 9 provides a plausible explanation for the expanded clinical phenotype observed in our individuals."
Created: 7 Dec 2016, 10:16 a.m.
Comment on list classification: Expert review green, and 3 cases/families reported in PMID: 20727516, plus additonal publications provide further evidence.
Created: 7 Dec 2016, 10:12 a.m.

Yanick Crow (University of Manchester)

Green List (high evidence)

Highly characteristic combination of intracranial calcification and polymicrgyria.
Created: 11 Feb 2016, 7:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe developmental delay with microcephaly

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Band-like calcification with simplified gyration and polymicrogyria
  • Band-like calcification with simplified gyration and polymicrogyria, 251290
  • Severe developmental delay with microcephaly
Tags
structural-variant
OMIM
602876
Clinvar variants
Variants in OCLN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and internal curation review.

7 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

7 Dec 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for OCLN were set to Band-like calcification with simplified gyration and polymicrogyria ; Band-like calcification with simplified gyration and polymicrogyria, 251290;Severe developmental delay with microcephaly

7 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for OCLN were set to 20727516; 26689621; 24668585; 23793442

7 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for OCLN were set to 20727516; 26689621;24668585;23793442

7 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for OCLN were set to 20727516;26689621

7 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

25 Aug 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

OCLN was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen

10 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

OCLN was added to Intracerebral calcification disorderspanel. Sources: Expert list

10 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

OCLN was created by ellenmcdonagh