Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Generalised arterial calcification in infancy v1.1 | Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Generalised arterial calcification in infancy v1.0 | Eleanor Williams promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Generalised arterial calcification in infancy v0.3 | Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Generalised arterial calcification in infancy v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Generalised arterial calcification in infancy v0.1 | ENPP1 | Achchuthan Shanmugasundram reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Generalised arterial calcification in infancy v0.1 | ABCC6 | Achchuthan Shanmugasundram reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Generalised arterial calcification in infancy v0.1 | ENPP1 |
Achchuthan Shanmugasundram gene: ENPP1 was added gene: ENPP1 was added to Generalised arterial calcification in infancy. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal |
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Generalised arterial calcification in infancy v0.1 | ABCC6 |
Achchuthan Shanmugasundram gene: ABCC6 was added gene: ABCC6 was added to Generalised arterial calcification in infancy. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal |
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Generalised arterial calcification in infancy v0.0 |
Achchuthan Shanmugasundram Added Panel Generalised arterial calcification in infancy Set list of related panels to R384 Set panel types to: GMS Rare Disease |