| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Retinitis pigmentosa_Autosomal Dominant v0.29 | IMPG1 | Zornitza Stark Marked gene: IMPG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.29 | IMPG1 | Zornitza Stark Gene: impg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.29 | IMPG1 | Zornitza Stark Classified gene: IMPG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.29 | IMPG1 | Zornitza Stark Gene: impg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.28 | IMPG1 |
Zornitza Stark gene: IMPG1 was added gene: IMPG1 was added to Retinitis pigmentosa_Autosomal Dominant. Sources: Literature Mode of inheritance for gene: IMPG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 GREEN Added comment: 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: Literature |
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