Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: IMPG2
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
Gene: impg2 has been classified as Green List (High Evidence).
Publications for gene: IMPG2 were set to
Mode of inheritance for gene: IMPG2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for gene: IMPG2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
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