| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.65 | ADIPOR1 | Zornitza Stark Marked gene: ADIPOR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.65 | ADIPOR1 | Zornitza Stark Gene: adipor1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.13 | ADIPOR1 | Bryony Thompson Classified gene: ADIPOR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.13 | ADIPOR1 | Bryony Thompson Added comment: Comment on list classification: Additional cases required to validate the association and confirm the inheritance patterns. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.13 | ADIPOR1 | Bryony Thompson Gene: adipor1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.12 | ADIPOR1 | Bryony Thompson reviewed gene: ADIPOR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26662040, 25736573, 30254279, 27655171; Phenotypes: Syndromic retinitis pigmentosa, non-syndromic retinitis pigmentosa; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 | ADIPOR1 |
Bryony Thompson gene: ADIPOR1 was added gene: ADIPOR1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: ADIPOR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ADIPOR1 were set to 26662040; 25736573; 30254279; 27655171 Phenotypes for gene: ADIPOR1 were set to syndromic retinitis pigmentosa; non-syndromic autosomal dominant retinitis pigmentosa |
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