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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: IMPG2

Green List (high evidence)
IMPG2 (interphotoreceptor matrix proteoglycan 2)
EnsemblGeneIds (GRCh38): ENSG00000081148
EnsemblGeneIds (GRCh37): ENSG00000081148
OMIM: 607056, Gene2Phenotype
IMPG2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 11:13 p.m. | Last Modified: 30 Jul 2020, 11:13 p.m.
Panel Version: 0.56

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 56, MIM# MIM#613581

Publications

Created: 30 Jul 2020, 11:13 p.m.
Last Modified: 30 Jul 2020, 11:13 p.m.
Panel version: 0.56

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 56, 613581
  • Maculopathy, IMPG2 - related
  • Retinitis pigmentosa
OMIM
607056
Clinvar variants
Variants in IMPG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: impg2 has been classified as Green List (High Evidence).

30 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IMPG2 were set to

30 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: IMPG2 was added gene: IMPG2 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: IMPG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: IMPG2 were set to Retinitis pigmentosa 56, 613581; Maculopathy, IMPG2 - related; Retinitis pigmentosa