This Panel is marked as Internal
Renal and urinary tract disorders
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
3 reviews
Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)
Although human mutations cause kidney disease, these are not true structural renal tract malformation but rather defects in terminal differentiation of tubule function.Created: 22 Apr 2016, noon
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Doesn't fit CAKUT structural phenotype.Created: 25 Apr 2016, 12:57 p.m.
Comment on mode of inheritance: Confirmed by reviewer, G2P and OMIM information.Created: 22 Apr 2016, 10:19 a.m.
Comment on list classification: Promoted from red to amber due to review. It is a confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME (OCRL) and Dent Disease Type 2, both which include renal defect phenotypes.Created: 22 Apr 2016, 10:19 a.m.
Helen Stuart (University of Manchester)
Not CAKUT gene renal phenotype is tubulopathy.Created: 18 Oct 2015, 9:03 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- 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
30 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Helen Stuart: Not CAKUT gene renal phenotype
20 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: OCRL was added gene: OCRL was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females