Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Polycystic liver disease v1.19 B9D1 Ivone Leong Phenotypes for gene: B9D1 were changed from Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927 to ?Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927
Polycystic liver disease v1.7 B9D1 Arina Puzriakova Phenotypes for gene: B9D1 were changed from ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120) to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927
Polycystic liver disease v0.3 B9D1 Ivone Leong Marked gene: B9D1 as ready
Polycystic liver disease v0.3 B9D1 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 not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.
Polycystic liver disease v0.3 B9D1 Ivone Leong Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Polycystic liver disease v0.2 B9D1 Ivone Leong gene: B9D1 was added
gene: B9D1 was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D1 were set to 21763481; 21493627
Phenotypes for gene: B9D1 were set to ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120)