This Panel is marked as Deleted
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS
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
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 300535
- Clinvar variants
- Variants in OCRL
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- CAKUT
- Adult onset leukodystrophy
- Intellectual disability
- Undiagnosed metabolic disorders
- Structural eye disease
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Renal tubulopathies
- Fetal anomalies
- Hypophosphataemia or rickets
- Proteinuric renal disease
- Bilateral congenital or childhood onset cataracts
- Nephrocalcinosis or nephrolithiasis
- Unexplained kidney failure in young people
- Rare multisystem ciliopathy disorders
- Glaucoma (developmental)
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: OCRL was added gene: OCRL was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: OCRL was set to Unknown