| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hair disorders v0.18 | RPL21 | Bryony Thompson Marked gene: RPL21 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.18 | RPL21 | Bryony Thompson Gene: rpl21 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.18 | RPL21 | Bryony Thompson Classified gene: RPL21 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.18 | RPL21 | Bryony Thompson Added comment: Comment on list classification: No supporting publications since the original in 2011. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.18 | RPL21 | Bryony Thompson Gene: rpl21 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hair disorders v0.17 | RPL21 |
Bryony Thompson gene: RPL21 was added gene: RPL21 was added to Hair disorders. Sources: NHS GMS Mode of inheritance for gene: RPL21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL21 were set to 21412954 Phenotypes for gene: RPL21 were set to Hypotrichosis 12 MIM#615885 Review for gene: RPL21 was set to AMBER Added comment: 2 unrelated Chinese families with the same missense (R32Q). Haplotype analysis revealed no founder effect in the 2 families. No functional assays were performed. Sources: NHS GMS |
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