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Mackenzie's Mission_Reproductive Carrier Screening

Gene: OCLN

Green List (high evidence)

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Band-like calcification with simplified gyration and polymicrogyria, 251290 (3)
OMIM
602876
Clinvar variants
Variants in OCLN
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OCLN was added gene: OCLN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria, 251290 (3)