Hypophosphataemia or rickets
Gene: OCRLThe 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
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
Tag for-review was removed from gene: OCRL.
Source Expert Review Green was added to OCRL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: OCRL.
Gene: ocrl has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: OCRL were changed from Lowe syndrome, MIM# 309000 to Lowe syndrome, 309000
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