Glaucoma (developmental)
Gene: OCRLGenotype/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, 4:57 p.m. | Last Modified: 4 May 2021, 4:57 p.m.
Panel Version: 1.34
Publications
Glaucoma present in ~50%, GeneReviews.
Sources: Expert listCreated: 2 Aug 2020, 10:36 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lowe syndrome, MIM# 309000
Variants in this GENE are reported as part of current diagnostic practice
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
Publications
Comment on list classification: Promoted from Amber to Green. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association, therefore this gene has been promoted to Green.Created: 16 Apr 2021, 1:16 p.m. | Last Modified: 16 Apr 2021, 1:16 p.m.
Panel Version: 1.19
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
Publications for gene: OCRL were set to 19168822
Gene: ocrl has been classified as Green List (High Evidence).
Phenotypes for gene: OCRL were changed from Lowe syndrome, MIM# 309000 to Lowe syndrome, OMIM:309000
Publications for gene: OCRL were set to
gene: OCRL was added gene: OCRL was added to Glaucoma (developmental). Sources: Expert list Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OCRL were set to Lowe syndrome, MIM# 309000 Review for gene: OCRL was set to GREEN gene: OCRL was marked as current diagnostic