| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.29 | NMNAT1 | Bryony Thompson Marked gene: NMNAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.29 | NMNAT1 | Bryony Thompson Gene: nmnat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.29 | NMNAT1 | Bryony Thompson Classified gene: NMNAT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.29 | NMNAT1 | Bryony Thompson Gene: nmnat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.28 | NMNAT1 |
Bryony Thompson gene: NMNAT1 was added gene: NMNAT1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NMNAT1 were set to 22842230; 17132048 Phenotypes for gene: NMNAT1 were set to Leber congenital amaurosis 9 MIM#608553 Review for gene: NMNAT1 was set to GREEN Added comment: At least 8 families with biallelic variants and a supporting drosophila model with retinal degeneration. Sources: Expert list |
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