Nephrocalcinosis or nephrolithiasis
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, 4:58 p.m. | Last Modified: 4 May 2021, 4:58 p.m.
Panel Version: 2.16
Publications
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
As for CLCN5 but may include intellectual disability and other features of Lowe syndrome
Comment on list classification: Can give non-syndromic renal disease in Dent disease phenotype.Created: 23 May 2016, 12:26 p.m.
Comment on list classification: Promoted from red to green due to expert review. Is a confirmed DD gene for Dent Disease, type 2 (which can inlcude nephrocalcinosis, hypercalciuria, chronic kidney disease, proximal tubulopathy), and a confirmed DD gene for Lowe oculocerebrorenal syndrome (which can include
Proximal renal tubular acidosis and Renal insufficiency phenotypes).Created: 20 May 2016, 9:44 a.m.
Mode of inheritance submitted by expert was "XLR", mapping to X-linked recessive = X-LINKED: hemizygous mutation in males, biallelic mutations in females.Created: 8 Jul 2015, 12:42 p.m.
Phenotypes for gene: OCRL were changed from Lowe syndrome, 309000; Dent disease 2, 300555; As for CLCN5 (Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD) but may include intellectual disability and other features of Lowe syndrome to Lowe syndrome, OMIM:309000; Dent disease 2, OMIM:300555; As for CLCN5 (Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD) but may include intellectual disability and other features of Lowe syndrome
Publications for gene: OCRL were set to
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for OCRL were set to Lowe syndrome, 309000; Dent disease 2, 300555; As for CLCN5 (Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD) but may include intellectual disability and other features of Lowe syndrome
Phenotypes for OCRL were set to Lowe syndrome, 309000; Dent disease 2, 300555; As for CLCN5 but may include intellectual disability and other features of Lowe syndrome
This gene has been classified as Green List (High Evidence).
Phenotypes for OCRL were set to Lowe syndrome, 309000Dent disease 2, 300555; As for CLCN5 but may include intellectual disability and other features of Lowe syndrome
Publications for OCRL were set to
OCRL was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert
OCRL was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen