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Niemann-Pick disease type A or B v1.1 | Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Niemann-Pick disease type A or B v1.0 | Sarah Leigh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Niemann-Pick disease type A or B v0.3 | Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Niemann-Pick disease type A or B v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Niemann-Pick disease type A or B v0.1 | SMPD1 | Achchuthan Shanmugasundram reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Niemann-Pick disease type A or B v0.1 | SMPD1 |
Achchuthan Shanmugasundram gene: SMPD1 was added gene: SMPD1 was added to Niemann-Pick disease type A or B. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal |
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Niemann-Pick disease type A or B v0.0 |
Achchuthan Shanmugasundram Added Panel Niemann-Pick disease type A or B Set list of related panels to R282 Set panel types to: GMS Rare Disease |