| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cholestasis v0.21 | NPC1 | Ivone Leong Marked gene: NPC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | NPC1 | 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 | NPC1 | Ivone Leong Gene: npc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.10 | NPC1 |
Ivone Leong Source Other was added to NPC1. Mode of inheritance for gene NPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Niemann-Pick disease, type D, 257220; Niemann-Pick disease type C1, 257220; Neonatal and Adult Cholestasis for gene: NPC1 Publications for gene NPC1 were changed from to 9634529; 10480349; 11545687; 10521290; 9211849; 24135395; 12554680; 11754101 |
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| Cholestasis v0.4 | NPC1 |
Ivone Leong Source Expert Review Green was added to NPC1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cholestasis v0.3 | NPC1 | Ivone Leong reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.2 | NPC1 |
Ivone Leong gene: NPC1 was added gene: NPC1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: NPC1 was set to |
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