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Retinal disorders

Gene: IMPG2

Green List (high evidence)
IMPG2 (interphotoreceptor matrix proteoglycan 2)
EnsemblGeneIds (GRCh38): ENSG00000081148
EnsemblGeneIds (GRCh37): ENSG00000081148
OMIM: 607056, Gene2Phenotype
IMPG2 is in 3 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Additional evidence for association with retinitis pigmentosa - PMID: 32242237 - Xu et al 2020 - created two independent Impg2 knockout (KO) mouse models using the CRISPR/Cas9 technique. Impg2 ablation in mice recapitulated the retinitis pigmentosa phenotypes of patients, including an attenuated electroretinogram (ERG) response and the progressive degeneration of photoreceptors. The study looks at the effects of Impg2 KO in retinas in detail and provides novel models for mechanistic investigations and development of therapies.
Created: 30 Jul 2020, 11:31 a.m. | Last Modified: 30 Jul 2020, 11:33 a.m.
Panel Version: 2.14

Publications

Created: 30 Jul 2020, 11:31 a.m.
Last Modified: 30 Jul 2020, 11:33 a.m.
Panel version: 2.14

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

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Maculopathy, IMPG2-related; Retinitis pigmentosa 56

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

Created: 17 Jan 2017, 4:30 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, 8:04 a.m.
Comment on mode of inheritance: Monoallelic for Macular dystrophy, vitelliform, 5, biallelic for Retinitis pigmentosa 56 (source: OMIM).
Created: 22 Mar 2016, 1:01 p.m.
Created: 22 Mar 2016, 1:01 p.m.

Panel version: 0.69

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Maculopathy, IMPG2 - related
  • Retinitis pigmentosa 56
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis pigmentosa 56, 613581
  • Retinitis Pigmentosa, Recessive
OMIM
607056
Clinvar variants
Variants in IMPG2
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to IMPG2. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Mar 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).

22 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for IMPG2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

IMPG2 was created by ellenmcdonagh

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

IMPG2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green