| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Retinitis pigmentosa_Autosomal Dominant v0.76 | ACTG1 | Zornitza Stark Marked gene: ACTG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.76 | ACTG1 | Zornitza Stark Gene: actg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.76 | ACTG1 | Zornitza Stark Phenotypes for gene: ACTG1 were changed from Retinitis pigmentosa to Retinitis pigmentosa MONDO:0019200, ACTG1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.75 | ACTG1 | Zornitza Stark Classified gene: ACTG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.75 | ACTG1 | Zornitza Stark Gene: actg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.74 | ACTG1 |
Eleanor Ludington gene: ACTG1 was added gene: ACTG1 was added to Retinitis pigmentosa_Autosomal Dominant. Sources: Literature Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTG1 were set to PMID: 28000701, PMID 34448047, PMID 39734360 Phenotypes for gene: ACTG1 were set to Retinitis pigmentosa Mode of pathogenicity for gene: ACTG1 was set to Other Review for gene: ACTG1 was set to AMBER Added comment: The ACTG1:c.773C>T;p.(Pro258Leu) variant has been reported in 2 individuals with retinitis pigmentosa, and one with night time vision impairment (see above PMIDs). An RMH patient with retinitis pigmentosa and examination and history findings consistent with Baraitser-Winter syndrome also has this variant. Collectively, these patients provide evidence that retinitis pigmentosa may be part of the Baraitser-Winter syndrome type 2 phenotype for individuals with this specific variant. Sources: Literature |
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