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  3. OCLN
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Intellectual_disability

Gene: OCLN

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

1 review

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Biallelic mode of inheritance supported by OMIM.
Created: 2 May 2017, 3:26 p.m.
Created: 2 May 2017, 3:26 p.m.

Panel version: 0.1136

Details

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

History Filter Activity

2 May 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for OCLN were set to 20727516

2 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

2 May 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

2 May 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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