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Polycystic liver disease interim v1.15 PKHD1 Ivone Leong Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4 with or without hepatic disease (263200) to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200; Caroli disease, MONDO:0010913
Polycystic liver disease interim v0.3 PKHD1 Ivone Leong Marked gene: PKHD1 as ready
Polycystic liver disease interim v0.3 PKHD1 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 interim v0.3 PKHD1 Ivone Leong Gene: pkhd1 has been classified as Green List (High Evidence).
Polycystic liver disease interim v0.2 PKHD1 Ivone Leong gene: PKHD1 was added
gene: PKHD1 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PKHD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PKHD1 were set to 11135065; 30211211; 11919560; 28862642; 11337358
Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4 with or without hepatic disease (263200)