Intracerebral calcification disorders
Gene: OCLNThe '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.
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
19th Dec 2016: panel revised according to expert review and internal curation review.
This gene has been classified as Green List (High Evidence).
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
Publications for OCLN were set to 20727516; 26689621; 24668585; 23793442
Publications for OCLN were set to 20727516; 26689621;24668585;23793442
Publications for OCLN were set to 20727516;26689621
This gene has been classified as Green List (High Evidence).
OCLN was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen
OCLN was added to Intracerebral calcification disorderspanel. Sources: Expert list
OCLN was created by ellenmcdonagh