Renal Tubulopathies and related disorders

Gene: OCRL

Green List (high evidence)

OCRL (OCRL, inositol polyphosphate-5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000122126
EnsemblGeneIds (GRCh37): ENSG00000122126
OMIM: 300535, Gene2Phenotype
OCRL is in 18 panels

3 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Hyperphosphaturia and rickets seen in condition
Sources: Expert list
Created: 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

Eleanor Williams (Genomics England)

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dent disease 2, MIM #300555
  • Lowe syndrome, MIM# 309000
OMIM
300535
Clinvar variants
Variants in OCRL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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