Retinal disorders
Gene: INVS

INVS (inversin)
EnsemblGeneIds (GRCh38): ENSG00000119509
EnsemblGeneIds (GRCh37): ENSG00000119509
OMIM: 243305, Gene2Phenotype
INVS is in 15 panels

3 reviews

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

Red List (low evidence)

nephronophthisis
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.

Panel Version: 1.159

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

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.

Created: 2 Jun 2016, 8:06 a.m.

Panel version: 0.201

Simon Ramsden (NHS)

Red List (low evidence)

This is primarily a gene causing nephthroniphthisis - there is an overlap with Senior Loken syndrome however no convincing evidence that this can cause non-syndromic RP. In my opinion there is insufficient evidence to have this on the panel
Created: 1 Jun 2016, 10:20 a.m.

Phenotypes
Nephthronophthisis

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

Created: 1 Jun 2016, 10:20 a.m.

Panel version: 0.173

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Eye Disorders
Nephronophthisis 2, infantile

OMIM

243305

Clinvar variants

Variants in INVS

Penetrance

Complete

Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to INVS.

1 Jun 2016, Gel status: 1