Hypophosphataemia or rickets
Gene: OCRLEnsemblGeneIds (GRCh38): ENSG00000122126
EnsemblGeneIds (GRCh37): ENSG00000122126
OMIM: 300535, Gene2Phenotype
OCRL is in 19 panels
2 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 2:10 p.m. | Last Modified: 3 Mar 2022, 2:10 p.m.
Panel Version: 2.16
Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is even evidence to support a gene-disease assocation and therefore this gene should be rated Green for this panel. It has been given an Amber rating for now until the next major review of this panel.Created: 14 Oct 2020, 9:13 a.m. | Last Modified: 14 Oct 2020, 9:13 a.m.
Panel Version: 2.10
Zornitza Stark (Australian Genomics)
Renal rickets is a complication of Lowe syndrome.
Sources: Expert listCreated: 8 Aug 2020, 4:57 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lowe syndrome, MIM# 309000
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- Lowe syndrome, 309000
- OMIM
- 300535
- Clinvar variants
- Variants in OCRL
- Penetrance
- None
- 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
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: OCRL.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to OCRL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: OCRL.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ocrl has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: OCRL were changed from Lowe syndrome, MIM# 309000 to Lowe syndrome, 309000
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: OCRL was added gene: OCRL was added to Hypophosphataemia or rickets. Sources: Expert list 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 19773212 Phenotypes for gene: OCRL were set to Lowe syndrome, MIM# 309000 Review for gene: OCRL was set to GREEN