Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Retinal disorders

Gene: IMPG1

Green List (high evidence)

IMPG1 (interphotoreceptor matrix proteoglycan 1)
EnsemblGeneIds (GRCh38): ENSG00000112706
EnsemblGeneIds (GRCh37): ENSG00000112706
OMIM: 602870, Gene2Phenotype
IMPG1 is in 1 panel

3 reviews

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

Green List (high evidence)

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Macular dystrophy, vitelliform, 4

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

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Macular dystrophy, vitelliform, 4
OMIM
602870
Clinvar variants
Variants in IMPG1
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 IMPG1. Rating Changed from Green List (high evidence) to Green List (high evidence)

23 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).

23 Mar 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for IMPG1 were set to Macular dystrophy, vitelliform, 4

23 Mar 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

IMPG1 was added to Posterior segment abnormalitiespanel. Sources: Expert list

23 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

IMPG1 was created by ellenmcdonagh