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Prepair 1000+

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

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Lowe Syndrome:
Congenital cataracts, severely impaired intellectual development, and renal tubular dysfunction with slowly progressive renal failure. Well established gene-disease association. Age of onset can be congenital, severe condition.

Dent-2 disease, renal tubulopathy. Low molecular weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones. Can involve degree of intellectual disability/developmental delay. Milder than Lowe Syndrome. End stage renal failure often between 30 and 50 years of age, but variable. Intrafamilial variation displayed.
Created: 25 Sep 2024, 5:07 a.m. | Last Modified: 25 Sep 2024, 5:07 a.m.
Panel Version: 1.322

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

Phenotypes
Dent disease 2 MIM#300555; Lowe syndrome MIM#309000

Publications

Created: 25 Sep 2024, 5:07 a.m.
Last Modified: 25 Sep 2024, 5:07 a.m.
Panel version: 1.322

History Filter Activity

4 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: ocrl has been classified as Green List (High Evidence).

4 Oct 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: OCRL were changed from Lowe syndrome, 309000 (3) to Dent disease 2 MIM#300555; Lowe syndrome MIM#309000

4 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: OCRL were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Lowe syndrome, 309000 (3) for gene: OCRL

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OCRL was added gene: OCRL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OCRL were set to Lowe syndrome, 309000 (3)