Renal Tubulopathies and related disorders
Gene: OCRL
Hyperphosphaturia and rickets seen in condition
Sources: Expert listCreated: 28 Nov 2022, 9:09 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Lowe syndrome, MIM# 309000; Dent disease 2, MIM #300555
Publications
Genotype/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, 4:55 p.m. | Last Modified: 4 May 2021, 4:55 p.m.
Panel Version: 0.7488
Phenotypes
Lowe syndrome, OMIM:309000
Publications
Well established gene-disease association. Lowe syndrome is an allelic disorder.Created: 14 Oct 2020, 9:51 a.m. | Last Modified: 14 Oct 2020, 9:51 a.m.
Panel Version: 0.5
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dent disease 2, MIM# 300555
Publications
gene: OCRL was added gene: OCRL was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: OCRL were set to 19773212, 27625797 Phenotypes for gene: OCRL were set to Dent disease 2, MIM #300555; Lowe syndrome, MIM# 309000