Activity
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11 actions
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| Pigmentary skin disorders v4.10 | BLM | Ida Ertmanska Tag Q2_25_ promote_green was removed from gene: BLM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.10 | BLM | Ida Ertmanska reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.9 | BLM |
Ida Ertmanska Source NHS GMS was added to BLM. Source Expert Review Green was added to BLM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Pigmentary skin disorders v4.4 | BLM | Eleanor Williams Tag Q2_25_ promote_green tag was added to gene: BLM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.4 | BLM | Eleanor Williams Classified gene: BLM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.4 | BLM | Eleanor Williams Added comment: Comment on list classification: Promoting this gene to amber with a recommendation for a green rating following NHS GMS review. After consultation with the Genomics England clinical team, their recommendation is for green as there are management implications (including avoiding exposures / ionising radiation) so the view is that is reasonable to include on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.4 | BLM | Eleanor Williams Gene: blm has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.1 | BLM | Eleanor Williams edited their review of gene: BLM: Changed publications to: 7485150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v4.1 | BLM | Eleanor Williams reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v3.12 | BLM | Arina Puzriakova Phenotypes for gene: BLM were changed from Bloom syndrome to Bloom syndrome, OMIM:210900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v3.11 | BLM |
Dmitrijs Rots gene: BLM was added gene: BLM was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLM were set to PMID: 32972601 Phenotypes for gene: BLM were set to Bloom syndrome Penetrance for gene: BLM were set to Complete Review for gene: BLM was set to GREEN Added comment: Included in the review PMID: 32972601 as differential for cafe-au-lait Sources: Expert Review |
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