Intracerebral calcification disorders
Gene: OCLNEnsemblGeneIds (GRCh38): ENSG00000197822
EnsemblGeneIds (GRCh37): ENSG00000197822
OMIM: 602876, Gene2Phenotype
OCLN is in 12 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
The '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.
Yanick Crow (University of Manchester)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Band-like calcification with simplified gyration and polymicrogyria
- Band-like calcification with simplified gyration and polymicrogyria, 251290
- Severe developmental delay with microcephaly
- Tags
- OMIM
- 602876
- Clinvar variants
- Variants in OCLN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Intracerebral calcification disorders
- Fetal anomalies
- COVID-19 research
- Cerebral vascular malformations
- White matter disorders and cerebral calcification - narrow panel
- Malformations of cortical development
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)19th Dec 2016: panel revised according to expert review and internal curation review.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for OCLN were set to 20727516; 26689621; 24668585; 23793442
Set publications
Ellen McDonagh (Genomics England Curator)Publications for OCLN were set to 20727516; 26689621;24668585;23793442
Set publications
Ellen McDonagh (Genomics England Curator)Publications for OCLN were set to 20727516;26689621
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)OCLN was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)OCLN was added to Intracerebral calcification disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)OCLN was created by ellenmcdonagh