Likely inborn error of metabolism
Gene: OCRLEnsemblGeneIds (GRCh38): ENSG00000122126
EnsemblGeneIds (GRCh37): ENSG00000122126
OMIM: 300535, Gene2Phenotype
OCRL is in 19 panels
2 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 explain symptom heterogeneity and may help stratify patientsCreated: 4 May 2021, 5:23 p.m. | Last Modified: 4 May 2021, 5:23 p.m.
Panel Version: 2.127
Publications
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for both Dent disease 2 300555 and Lowe syndrome 309000. At least 5variants reported in Dent disease 2 300555 and 4 variants in Lowe syndrome 309000.Created: 19 Aug 2019, 1 p.m. | Last Modified: 19 Aug 2019, 1 p.m.
Panel Version: 1.200
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for both Dent disease 2 300555 and Lowe syndrome 309000. At least 5variants reported in Dent disease 2 300555 and 4 variants in Lowe syndrome 309000.Created: 19 Aug 2019, 12:59 p.m. | Last Modified: 19 Aug 2019, 12:59 p.m.
Panel Version: 1.200
Comment on phenotypes: Lowe syndrome (Disorders of amino acid transport);Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Intellectual disability;Intellectual_disability;CataractsCreated: 19 Aug 2019, 12:56 p.m. | Last Modified: 19 Aug 2019, 12:56 p.m.
Panel Version: 1.199
Comment on phenotypes: Lowe syndrome (Disorders of amino acid transport);Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Intellectual disability;Intellectual_disability;CataractsCreated: 19 Aug 2019, 12:55 p.m. | Last Modified: 19 Aug 2019, 12:55 p.m.
Panel Version: 1.199
Comment on phenotypes: Dent disease 2 300555;Lowe syndrome 309000Created: 19 Aug 2019, 12:49 p.m. | Last Modified: 19 Aug 2019, 12:49 p.m.
Panel Version: 1.196
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- London North GLH
- NHS GMS
- Phenotypes
-
- Dent disease 2, OMIM:300555
- Lowe syndrome, OMIM:309000
- OMIM
- 300535
- Clinvar variants
- Variants in OCRL
- Penetrance
- None
- Publications
- Panels with this gene
-
- Nephrocalcinosis or nephrolithiasis
- CAKUT
- Childhood onset dystonia, chorea or related movement disorder
- Renal tubulopathies
- Undiagnosed metabolic disorders
- Structural eye disease
- Inherited white matter disorders
- Adult onset leukodystrophy
- Likely inborn error of metabolism
- 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)
- Hypophosphataemia or rickets
- Rare multisystem ciliopathy disorders
History Filter Activity
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: OCRL were set to 27604308; 8504307; 9632163; 9632163; 15627218; 27625797
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: OCRL were changed from Dent disease 2 300555; Lowe syndrome 309000 to Dent disease 2, OMIM:300555; Lowe syndrome, OMIM:309000
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ocrl has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ocrl has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: OCRL were changed from Dent disease 2 300555; Lowe syndrome 309000 to Dent disease 2 300555; Lowe syndrome 309000
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: OCRL were changed from Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts to Dent disease 2 300555; Lowe syndrome 309000
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: OCRL were changed from Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts to Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: OCRL were set to 27604308
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: OCRL were changed from Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts to Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts
Added New Source, Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to OCRL. Source London North GLH was added to OCRL.
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Sarah Leigh: Associated with relevant pheno
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: OCRL was added gene: OCRL was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OCRL were set to 27604308 Phenotypes for gene: OCRL were set to Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts