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| Polycystic liver disease v1.13 | PKD1 | Ivone Leong Phenotypes for gene: PKD1 were changed from Polycystic Kidney Disease 1 with or without polycystic liver disease, OMIM:173900; Caroli disease, MONDO:0010913 to Polycystic kidney disease 1, OMIM:173900; Caroli disease, MONDO:0010913 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v1.12 | PKD1 | Ivone Leong Phenotypes for gene: PKD1 were changed from Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) to Polycystic Kidney Disease 1 with or without polycystic liver disease, OMIM:173900; Caroli disease, MONDO:0010913 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.3 | PKD1 | Ivone Leong Marked gene: PKD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.3 | PKD1 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.3 | PKD1 | Ivone Leong Gene: pkd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v0.2 | PKD1 |
Ivone Leong gene: PKD1 was added gene: PKD1 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PKD1 were set to 8554072; 3178424; 9211343 Phenotypes for gene: PKD1 were set to Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) |
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