Bilateral congenital or childhood onset cataracts
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, 5 p.m. | Last Modified: 4 May 2021, 5 p.m.
Panel Version: 2.72
Publications
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME, and in OMIM there are more than 3 unrelated cases associated with Lowe syndrome.Created: 29 Apr 2016, 12:51 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lowe syndrome; Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME
Phenotypes for gene: OCRL were changed from Lowe syndrome; Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME to Lowe syndrome, OMIM:309000; Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME
Publications for gene: OCRL were set to
Mode of inheritance for OCRL was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
Mode of inheritance for OCRL was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for OCRL were set to Lowe syndrome; Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME
Mode of inheritance for OCRL was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
OCRL was added to Cataractspanel. Sources: UKGTN