Bilateral congenital or childhood onset cataracts
Gene: OCRLEnsemblGeneIds (GRCh38): ENSG00000122126
EnsemblGeneIds (GRCh37): ENSG00000122126
OMIM: 300535, Gene2Phenotype
OCRL is in 19 panels
3 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, 5 p.m. | Last Modified: 4 May 2021, 5 p.m.
Panel Version: 2.72
Publications
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME, and in OMIM there are more than 3 unrelated cases associated with Lowe syndrome.Created: 29 Apr 2016, 12:51 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lowe syndrome; Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Lowe syndrome, OMIM:309000
- Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME
- OMIM
- 300535
- Clinvar variants
- Variants in OCRL
- Penetrance
- Complete
- 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 Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: OCRL were changed from Lowe syndrome; Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME to Lowe syndrome, OMIM:309000; Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: OCRL were set to
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for OCRL was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for OCRL was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for OCRL were set to Lowe syndrome; Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()OCRL was added to Cataractspanel. Sources: UKGTN