CAKUT
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
- UKGTN
- OMIM
- 300535
- Clinvar variants
- Variants in OCRL
- Penetrance
- Complete
- Panels with this gene
-
- Structural eye disease
- Fetal anomalies
- Proteinuric renal disease
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Hypophosphataemia or rickets
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- Nephrocalcinosis or nephrolithiasis
- Unexplained kidney failure in young people
- DDG2P
- Renal tubulopathies
- Adult onset leukodystrophy
- Inherited white matter disorders
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
History Filter Activity
25 Apr 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
22 Apr 2016, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for OCRL was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
22 Apr 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
14 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)OCRL was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: UKGTN