Cataracts

Gene: OCRL

Green List (high evidence)

OCRL (OCRL, inositol polyphosphate-5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000122126
EnsemblGeneIds (GRCh37): ENSG00000122126
OMIM: 300535, Gene2Phenotype
OCRL is in 19 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME, and in OMIM there are more than 3 unrelated cases associated with Lowe syndrome.
Created: 29 Apr 2016, 12:51 p.m.

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

Phenotypes
Lowe syndrome; Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME

History Filter Activity

10 Jan 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for OCRL was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for OCRL were set to Lowe syndrome; Confirmed DD gene for LOWE OCULOCEREBRORENAL SYNDROME

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

OCRL was added to Cataractspanel. Sources: UKGTN