Nephrocalcinosis or nephrolithiasis
Gene: OCRLEnsemblGeneIds (GRCh38): ENSG00000122126
EnsemblGeneIds (GRCh37): ENSG00000122126
OMIM: 300535, Gene2Phenotype
OCRL is in 19 panels
4 reviews
Eleanor Williams (Genomics England Curator)
Genotype/Phenotype information: PMID: 33517444 - Ramadesikan et al 2021 - studied the cellular effect of 7 OCRL1 (OCRL) variants identified in Lowe Syndrome patients in kidney epithelial cells. Differences in cell spreading, ciliogenesis, protein localization and degree of Golgi apparatus fragmentation were observed. The results help provide a framework to explains symptom heterogeneity and may help stratify patients.Created: 4 May 2021, 4:58 p.m. | Last Modified: 4 May 2021, 4:58 p.m.
Panel Version: 2.16
Publications
Fiona Karet (Universit y of Cambridge)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
As for CLCN5 but may include intellectual disability and other features of Lowe syndrome
Ellen Thomas (Genomics England Curator)
Comment on list classification: Can give non-syndromic renal disease in Dent disease phenotype.Created: 23 May 2016, 12:26 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review. Is a confirmed DD gene for Dent Disease, type 2 (which can inlcude nephrocalcinosis, hypercalciuria, chronic kidney disease, proximal tubulopathy), and a confirmed DD gene for Lowe oculocerebrorenal syndrome (which can include
Proximal renal tubular acidosis and Renal insufficiency phenotypes).Created: 20 May 2016, 9:44 a.m.
Mode of inheritance submitted by expert was "XLR", mapping to X-linked recessive = X-LINKED: hemizygous mutation in males, biallelic mutations in females.Created: 8 Jul 2015, 12:42 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Lowe syndrome, OMIM:309000
- Dent disease 2, OMIM:300555
- As for CLCN5 (Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD) but may include intellectual disability and other features of Lowe syndrome
- OMIM
- 300535
- Clinvar variants
- Variants in OCRL
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural eye disease
- Fetal anomalies
- Proteinuric renal disease
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Hypophosphataemia or rickets
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- Nephrocalcinosis or nephrolithiasis
- White matter disorders and cerebral calcification - narrow panel
- Unexplained kidney failure in young people
- DDG2P
- Renal tubulopathies
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: OCRL were changed from Lowe syndrome, 309000; Dent disease 2, 300555; As for CLCN5 (Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD) but may include intellectual disability and other features of Lowe syndrome to Lowe syndrome, OMIM:309000; Dent disease 2, OMIM:300555; As for CLCN5 (Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD) but may include intellectual disability and other features of Lowe syndrome
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: OCRL were set to
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for OCRL were set to Lowe syndrome, 309000; Dent disease 2, 300555; As for CLCN5 (Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD) but may include intellectual disability and other features of Lowe syndrome
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for OCRL were set to Lowe syndrome, 309000; Dent disease 2, 300555; As for CLCN5 but may include intellectual disability and other features of Lowe syndrome
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for OCRL were set to Lowe syndrome, 309000Dent disease 2, 300555; As for CLCN5 but may include intellectual disability and other features of Lowe syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for OCRL were set to
Added New Source
Eik Haraldsdottir (Genomics England)OCRL was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert
Added New Source
GEL ()OCRL was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen