Unexplained kidney failure in young people
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 Review Red
- UKGTN
- OMIM
- 300535
- Clinvar variants
- Variants in OCRL
- Penetrance
- Complete
- Panels with this gene
-
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Intellectual disability
- CAKUT
- Hypophosphataemia or rickets
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Renal tubulopathies
- Nephrocalcinosis or nephrolithiasis
- Likely inborn error of metabolism
- Unexplained kidney failure in young people
- Dystonia, chorea or related movement disorder, childhood onset
- Proteinuric renal disease
- Structural eye disease
- Rare multisystem ciliopathy disorders
- DDG2P
- Fetal anomalies
- Glaucoma (developmental)
History Filter Activity
17 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
18 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)OCRL was created by sleigh
18 May 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)OCRL was added to Unexplained kidney failure in young peoplepanel. Sources: UKGTN,Expert Review Red