Rare multisystem ciliopathy disorders
Gene: OCRL

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

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Patients with Lowe syndrome unlikely to fulfil entry criteria to this panel
Created: 25 Jan 2017, 1:54 p.m.

Created: 25 Jan 2017, 1:54 p.m.

Panel version: 0.471

Details

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

Dent disease 2, 300555
Lowe syndrome, 309000

OMIM

300535

Clinvar variants

Variants in OCRL

Penetrance

Complete

Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

25 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

25 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

OCRL was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen

25 Nov 2016, Gel status: 0

Created