Glaucoma (developmental)
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, 4:57 p.m. | Last Modified: 4 May 2021, 4:57 p.m.
Panel Version: 1.34
Publications
Zornitza Stark (Australian Genomics)
Glaucoma present in ~50%, GeneReviews.
Sources: Expert listCreated: 2 Aug 2020, 10:36 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lowe syndrome, MIM# 309000
Variants in this GENE are reported as part of current diagnostic practice
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
RH 1. Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation. Yuksel et al J Child Neurol. 2009 Jan;24(1):93-6. Boy with Lowe syndrome, including microphthalmia and a missense in OCRL1. They don't say about the nature of the inheritance. MIGHT BE GOOD FOR AN AMBER GENE.Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lowe syndrome; 309000
Publications
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from Amber to Green. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association, therefore this gene has been promoted to Green.Created: 16 Apr 2021, 1:16 p.m. | Last Modified: 16 Apr 2021, 1:16 p.m.
Panel Version: 1.19
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). RH 1. Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation. Yuksel et al J Child Neurol. 2009 Jan;24(1):93-6. Boy with Lowe syndrome, including microphthalmia and a missense in OCRL1. They don't say about the nature of the inheritance. MIGHT BE GOOD FOR AN AMBER GENE.Created: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lowe syndrome; 309000
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- 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 19168822
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ocrl has been classified as Green List (High Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: OCRL were changed from Lowe syndrome, MIM# 309000 to Lowe syndrome, OMIM:309000
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: OCRL were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: OCRL was added gene: OCRL was added to Glaucoma (developmental). Sources: Expert list Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OCRL were set to Lowe syndrome, MIM# 309000 Review for gene: OCRL was set to GREEN gene: OCRL was marked as current diagnostic