White matter disorders and cerebral calcification - narrow panel
Gene: OCRL
OCRL (OCRL, inositol polyphosphate-5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000122126
EnsemblGeneIds (GRCh37): ENSG00000122126
OMIM: 300535, Gene2Phenotype
OCRL is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000122126
EnsemblGeneIds (GRCh37): ENSG00000122126
OMIM: 300535, Gene2Phenotype
OCRL is in 19 panels
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Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Phenotypes
-
- Lowe syndrome, MIM#309000
- OMIM
- 300535
- Clinvar variants
- Variants in OCRL
- Penetrance
- None
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Nephrocalcinosis or nephrolithiasis
- CAKUT
- Intellectual disability
- Likely inborn error of metabolism
- Renal tubulopathies
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Fetal anomalies
- Adult onset leukodystrophy
- Structural eye disease
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Proteinuric renal disease
- DDG2P
- Bilateral congenital or childhood onset cataracts
- White matter disorders and cerebral calcification - narrow panel
- Glaucoma (developmental)
- Hypophosphataemia or rickets
History Filter Activity
8 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: OCRL was added gene: OCRL was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OCRL were set to Lowe syndrome, MIM#309000