This Panel is marked as Deleted
Leukodystrophy Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 300535
- Clinvar variants
- Variants in OCRL
- Penetrance
- None
- Panels with this gene
-
- Nephrocalcinosis or nephrolithiasis
- CAKUT
- Childhood onset dystonia, chorea or related movement disorder
- Renal tubulopathies
- Undiagnosed metabolic disorders
- Structural eye disease
- Inherited white matter disorders
- Adult onset leukodystrophy
- Likely inborn error of metabolism
- Unexplained kidney failure in young people
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Proteinuric renal disease
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Glaucoma (developmental)
- Hypophosphataemia or rickets
- Rare multisystem ciliopathy disorders
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)OCRL was added to Leukodystrophy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)OCRL was created by Sarah Leigh