Unexplained young onset end-stage renal disease
Gene: OCRL
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 explain symptom heterogeneity and may help stratify patientsCreated: 4 May 2021, 5:28 p.m. | Last Modified: 4 May 2021, 5:28 p.m.
Panel Version: 1.16
Red review refers to the gene on another panel.Created: 23 Oct 2019, 11:19 p.m. | Last Modified: 23 Oct 2019, 11:19 p.m.
Panel Version: 0.49
Comment on mode of inheritance: Taking suggested MOI from GMS list for Proteinuiric renal disease but note OMIM has XLR as the MOI.Created: 23 Oct 2019, 11:10 p.m. | Last Modified: 23 Oct 2019, 11:17 p.m.
Panel Version: 0.49
Comment on publications: Publications taken from the Proteinuric renal disease panelCreated: 9 Apr 2019, 1:27 p.m.
Comment on phenotypes: Phenotypes taken from the Proteinuric renal disease panelCreated: 9 Apr 2019, 1:26 p.m.
Comment on list classification: Changed rating from Red to Green as this gene is Green on the Proteinuric renal disease (Version 1.85) panel.Created: 9 Apr 2019, 1:25 p.m.
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of RedCreated: 9 Apr 2019, 11:17 a.m.
Publications
Although human mutations cause kidney disease, these are not true structural renal tract malformation but rather defects in terminal differentiation of tubule function.Created: 22 Apr 2016, noon
Comment on list classification: Doesn't fit CAKUT structural phenotype.Created: 25 Apr 2016, 12:57 p.m.
Comment on mode of inheritance: Confirmed by reviewer, G2P and OMIM information.Created: 22 Apr 2016, 10:19 a.m.
Comment on list classification: Promoted from red to amber due to review. It is a confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME (OCRL) and Dent Disease Type 2, both which include renal defect phenotypes.Created: 22 Apr 2016, 10:19 a.m.
Not CAKUT gene renal phenotype is tubulopathy.Created: 18 Oct 2015, 9:03 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OCRL were set to 21249396; 17384968
Phenotypes for gene: OCRL were changed from LOWE OCULOCEREBRORENAL SYNDROME #309000; Dent disease 2 #300555 to Lowe syndrome, OMIM:309000; Dent disease 2, OMIM:300555
Source: Expert Review Red was removed from gene: OCRL
Mode of inheritance for gene: OCRL was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females 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
Phenotypes for gene: OCRL were changed from to LOWE OCULOCEREBRORENAL SYNDROME #309000; Dent disease 2 #300555
Gene: ocrl has been classified as Green List (High Evidence).
Gene: ocrl has been classified as Red List (Low Evidence).
gene: OCRL was added gene: OCRL was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females