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Thanatophoric dysplasia v1.1 | Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thanatophoric dysplasia v1.0 | Mafalda Gomes promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thanatophoric dysplasia v0.3 | Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thanatophoric dysplasia v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thanatophoric dysplasia v0.1 | FGFR3 | Achchuthan Shanmugasundram reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Thanatophoric dysplasia v0.1 | FGFR3 |
Achchuthan Shanmugasundram gene: FGFR3 was added gene: FGFR3 was added to Thanatophoric dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Thanatophoric dysplasia v0.0 |
Achchuthan Shanmugasundram Added Panel Thanatophoric dysplasia Set list of related panels to R25 Set panel types to: GMS Rare Disease |