Retinal disorders
Gene: WHRN

WHRN (whirlin)
EnsemblGeneIds (GRCh38): ENSG00000095397
EnsemblGeneIds (GRCh37): ENSG00000095397
OMIM: 607928, Gene2Phenotype
WHRN is in 8 panels

4 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Louise Daugherty (Genomics England Curator)

added new-gene-name tag
Created: 9 Dec 2016, 5:12 p.m.

Created: 9 Dec 2016, 5:12 p.m.

Panel version: 1.14

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:06 a.m.

Comment on list classification: Promoted to green due to expert review.
Created: 1 Jun 2016, 12:13 p.m.

Created: 1 Jun 2016, 12:13 p.m.

Panel version: 0.179

Simon Ramsden (NHS)

Green List (high evidence)

Published - and we have found in a patient with Usher.
Created: 1 Jun 2016, 10:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher

Publications

PubMed: 17171570

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

Created: 1 Jun 2016, 10:01 a.m.

Panel version: 0.169

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Eye Disorders

OMIM

607928

Clinvar variants

Variants in WHRN

Penetrance

Complete

Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 4

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to WHRN.

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

DFNB31 was changed to WHRN

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from DFNB31. Panel: Posterior segment abnormalities

1 Jun 2016, Gel status: 4