Renal tubulopathies

Gene: OCRL

Red List (low evidence)

OCRL (OCRL, inositol polyphosphate-5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000122126
EnsemblGeneIds (GRCh37): ENSG00000122126
OMIM: 300535, Gene2Phenotype
OCRL is in 23 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: After consultation with the Genomics England rare disease clinical team leaving this gene red on this panel as Dent disease is covered by the 'R256 Nephrocalcinosis or nephrolithiasis' panel.
Created: 5 Sep 2019, 8:25 p.m. | Last Modified: 5 Sep 2019, 8:25 p.m.
Panel Version: 1.140
Associated with Dent disease 2 #300555 and Lowe syndrome #309000 in OMIM both with reported renal clinical features.

Many cases of association between variants in OCRL and these diseases reported in OMIM.
e.g. PMID: 10364518 (Satre et al 1999) reports on 8 famlies with Lowe Syndrome. Five of these eight pedigrees had a family history of at least two male patients carrying a clinical diagnosis of Lowe syndrome on the basis of the classic triad of defects affecting lens, brain and kidney. Seven new mutations and one recurrent mutation were identified in the OCRL1 gene in one carrier mother and in seven affected patients. They identified a germ-line mosaicism in one family.
Created: 31 Aug 2019, 5:48 p.m. | Last Modified: 31 Aug 2019, 5:48 p.m.
Panel Version: 1.82
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: OCRL; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 3 Feb 2019, 11:32 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Dent disease 2, MIM 300555. Lowe syndrome, MIM 309000

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

5 Sep 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: OCRL were set to

5 Sep 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: OCRL was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

5 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ocrl has been classified as Red List (Low Evidence).

17 Jun 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: OCRL were changed from to Dent disease 2, 300555. Lowe syndrome, 309000

3 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: OCRL was added gene: OCRL was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: OCRL was set to