Structural eye disease
Gene: OCRL
Yuksel et al 2009. Boy with Lowe syndrome, including microphthalmia and a missense in OCRL1, inheritance not reported. Ma et al. 2020 137 individuals with Lowe syndrome, 79 had molecular confirmation of OCRL1 variant (variants not listed), 41% had developmental glaucoma. Song et al. 2017 2 individuals with Lowe Syndrome and glaucoma with truncating variants inherited from carrier mother (X-linked). Many further reportsCreated: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101
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; 309000; Lowe syndrome
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:54 a.m. | Last Modified: 8 Mar 2022, 10:54 a.m.
Panel Version: 1.115
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Glaucoma is present in ~50% of cases, GeneReviews. Therefore this gene should be promoted to Green status at the next review.Created: 16 Apr 2021, 1:20 p.m. | Last Modified: 16 Apr 2021, 1:20 p.m.
Panel Version: 1.57
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
Tag Q2_21_rating 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 Q2_21_rating tag was added to gene: OCRL.
Phenotypes for gene: OCRL were changed from Lowe syndrome, 309000 to Lowe syndrome, OMIM:309000
gene: OCRL was added gene: OCRL was added to Structural eye disease. Sources: NHS GMS,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 19168822 Phenotypes for gene: OCRL were set to Lowe syndrome, 309000