| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Niemann Pick disease type C v1.1 | Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Niemann Pick disease type C v1.0 | Sarah Leigh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Niemann Pick disease type C v0.3 | Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Niemann Pick disease type C v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Niemann Pick disease type C v0.1 | NPC2 | Achchuthan Shanmugasundram reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Niemann Pick disease type C v0.1 | NPC1 | Achchuthan Shanmugasundram reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Niemann Pick disease type C v0.1 | NPC2 |
Achchuthan Shanmugasundram gene: NPC2 was added gene: NPC2 was added to Niemann Pick disease type C. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Niemann Pick disease type C v0.1 | NPC1 |
Achchuthan Shanmugasundram gene: NPC1 was added gene: NPC1 was added to Niemann Pick disease type C. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Niemann Pick disease type C v0.0 |
Achchuthan Shanmugasundram Added Panel Niemann Pick disease type C Set list of related panels to R380 Set panel types to: GMS Rare Disease |
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