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Neurofibromatosis type 1 (GMS) v1.1 | Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurofibromatosis type 1 (GMS) v1.0 | Sarah Leigh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurofibromatosis type 1 (GMS) v0.3 | Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurofibromatosis type 1 (GMS) v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurofibromatosis type 1 (GMS) v0.1 | SPRED1 | Achchuthan Shanmugasundram reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurofibromatosis type 1 (GMS) v0.1 | NF1 | Achchuthan Shanmugasundram reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurofibromatosis type 1 (GMS) v0.1 | SPRED1 |
Achchuthan Shanmugasundram gene: SPRED1 was added gene: SPRED1 was added to Neurofibromatosis type 1 (GMS). Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Neurofibromatosis type 1 (GMS) v0.1 | NF1 |
Achchuthan Shanmugasundram gene: NF1 was added gene: NF1 was added to Neurofibromatosis type 1 (GMS). Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Neurofibromatosis type 1 (GMS) v0.0 |
Achchuthan Shanmugasundram Added Panel Neurofibromatosis type 1 (GMS) Set list of related panels to R222 Set panel types to: GMS Rare Disease |