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Smith-Lemli-Opitz syndrome v1.1 | Mafalda Gomes Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Smith-Lemli-Opitz syndrome v1.0 | Mafalda Gomes promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Smith-Lemli-Opitz syndrome v0.3 | Mafalda Gomes Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Smith-Lemli-Opitz syndrome v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Smith-Lemli-Opitz syndrome v0.1 | DHCR7 | Achchuthan Shanmugasundram reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Smith-Lemli-Opitz syndrome v0.1 | DHCR7 |
Achchuthan Shanmugasundram gene: DHCR7 was added gene: DHCR7 was added to Smith-Lemli-Opitz syndrome. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal |
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Smith-Lemli-Opitz syndrome v0.0 |
Achchuthan Shanmugasundram Added Panel Smith-Lemli-Opitz syndrome Set list of related panels to R270 Set panel types to: GMS Rare Disease |