| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cholestasis v0.21 | NPC2 | Ivone Leong Marked gene: NPC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | NPC2 | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | NPC2 | Ivone Leong Gene: npc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.10 | NPC2 |
Ivone Leong Source Other was added to NPC2. Mode of inheritance for gene NPC2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neonatal and Adult Cholestasis; Niemann-Pick disease type C2, 607625 for gene: NPC2 Publications for gene NPC2 were changed from to 17470133; 11567215; 11125141; 12955717 |
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| Cholestasis v0.4 | NPC2 |
Ivone Leong Source Expert Review Green was added to NPC2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cholestasis v0.3 | NPC2 | Ivone Leong reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.2 | NPC2 |
Ivone Leong gene: NPC2 was added gene: NPC2 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: NPC2 was set to |
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