Structural eye disease

Gene: OCRL

Green List (high evidence)

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 reports

Created: 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

• 19168822
• 32340490
• 28473699

I don't know

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

• 19168822

Variants in this GENE are reported as part of current diagnostic practice