Activity
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9 actions
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| Segmental or atypical neurofibromatosis type 1 testing v1.2 | NF1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #162200, #162210 & #60132) and the OMIM records were last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental or atypical neurofibromatosis type 1 testing v1.2 | NF1 | Achchuthan Shanmugasundram Phenotypes for gene: NF1 were changed from to Neurofibromatosis, type 1, OMIM:162200; Neurofibromatosis, familial spinal, OMIM:162210; Neurofibromatosis-Noonan syndrome, OMIM:601321; neurofibromatosis type 1, MONDO:0018975; neurofibromatosis-Noonan syndrome, MONDO:0011035 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental or atypical neurofibromatosis type 1 testing v1.1 | Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental or atypical neurofibromatosis type 1 testing v1.0 | Mafalda Gomes promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental or atypical neurofibromatosis type 1 testing v0.3 | Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental or atypical neurofibromatosis type 1 testing v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental or atypical neurofibromatosis type 1 testing 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental or atypical neurofibromatosis type 1 testing v0.1 | NF1 |
Achchuthan Shanmugasundram gene: NF1 was added gene: NF1 was added to Segmental or atypical neurofibromatosis type 1 testing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Segmental or atypical neurofibromatosis type 1 testing v0.0 |
Achchuthan Shanmugasundram Added Panel Segmental or atypical neurofibromatosis type 1 testing Set list of related panels to R376 Set panel types to: GMS Rare Disease |
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