Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: IMPG1EnsemblGeneIds (GRCh38): ENSG00000112706
EnsemblGeneIds (GRCh37): ENSG00000112706
OMIM: 602870, Gene2Phenotype
IMPG1 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variants in this gene are classically associated with macular dystrophy.
However note recent paper by Olivier et al. 2021 (PMID: 32817297) who identified seven variants in IMPG1 (including five novel) in 11 families with VMD or retinitis pigmentosa (RP).
4 families were diagnosed with autosomal dominant RP, 2 families had autosomal recessive RP, while 5 families developed VMD in association with heterozygous IMPG1 variants. Notably, inter- and intrafamilial phenotypic variation was evident with some individuals presenting RP while others had VMD, despite harbouring the same IMPG1 variant.
Knockdown of Impg1 in medaka fish resulted in a phenotype consistent with that observed in human patients, including a decreased length of rod and cone photoreceptor outer segments.
Sources: LiteratureCreated: 7 Aug 2021, 1:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa, MONDO:0019200; Retinitis pigmentosa 91, MIM# 153870
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Retinitis pigmentosa, MONDO:0019200
- Retinitis pigmentosa 91, MIM# 153870
- OMIM
- 602870
- Clinvar variants
- Variants in IMPG1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: IMPG1 were changed from Retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa, MONDO:0019200; Retinitis pigmentosa 91, MIM# 153870
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: impg1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: impg1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IMPG1 was added gene: IMPG1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature Mode of inheritance for gene: IMPG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IMPG1 were set to 32817297 Phenotypes for gene: IMPG1 were set to Retinitis pigmentosa, MONDO:0019200 Review for gene: IMPG1 was set to AMBER