This Panel is marked as Deleted
Kidneyome_SuperPanel_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
0 reviews
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Lowe syndrome, MIM#309000
- Dent disease 2, MIM#300555
- OMIM
- 300535
- Clinvar variants
- Variants in OCRL
- Penetrance
- None
- Panels with this gene
-
- Hypophosphataemia or rickets
- Rare multisystem ciliopathy disorders
- Nephrocalcinosis or nephrolithiasis
- Likely inborn error of metabolism
- CAKUT
- Renal tubulopathies
- Undiagnosed metabolic disorders
- Structural eye disease
- Inherited white matter disorders
- Adult onset leukodystrophy
- Childhood onset dystonia, chorea or related movement disorder
- 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)
History Filter Activity
28 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: OCRL was added gene: OCRL was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Green,Expert list 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; Dent disease 2, MIM#300555