Structural basal ganglia disorders

Gene: OCLN

Green List (high evidence)

OCLN (occludin)
EnsemblGeneIds (GRCh38): ENSG00000197822
EnsemblGeneIds (GRCh37): ENSG00000197822
OMIM: 602876, Gene2Phenotype
OCLN is in 10 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 4 variants reported in 3 cases
Created: 16 Mar 2017, 11:54 a.m.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

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

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

16 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

16 Mar 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for OCLN were set to 20727516

16 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

7 Sep 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

OCLN was added to Structural basal ganglia disorderspanel. Source: UKGTN

7 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

OCLN was created by sleigh

7 Sep 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

OCLN was added to Structural basal ganglia disorderspanel. Sources: Radboud University Medical Center, Nijmegen