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Intellectual disability syndromic and non-syndromic

Gene: OCLN

Green List (high evidence)

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

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, simplified gyration and polymicrogyria, and severe developmental delay. More than 20 unrelated families reported.
Created: 26 Sep 2024, 4:35 a.m. | Last Modified: 26 Sep 2024, 4:35 a.m.
Panel Version: 0.6248

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pseudo-TORCH syndrome 1, MIM#251290

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Pseudo-TORCH syndrome 1, MIM#251290
OMIM
602876
Clinvar variants
Variants in OCLN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: OCLN were set to

15 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OCLN was added gene: OCLN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OCLN was set to Unknown