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Cholestasis v1.99 MYO5B Arina Puzriakova Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease, 251850; Cholestasis; MYO5B associated disease to Diarrhea 2, with microvillus atrophy, OMIM:251850
Cholestasis v0.21 MYO5B Ivone Leong Marked gene: MYO5B as ready
Cholestasis v0.21 MYO5B 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 MYO5B Ivone Leong Gene: myo5b has been classified as Green List (High Evidence).
Cholestasis v0.9 MYO5B Ivone Leong Phenotypes for gene: MYO5B were changed from to Microvillus inclusion disease, 251850; Cholestasis; MYO5B associated disease
Cholestasis v0.8 MYO5B Ivone Leong Publications for gene: MYO5B were set to
Cholestasis v0.7 MYO5B Ivone Leong Mode of inheritance for gene: MYO5B was changed from to BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.5 MYO5B Anna de Burca reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28027573; Phenotypes: Cholestasis, Microvillus inclusion disease with cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.4 MYO5B Ivone Leong Source Expert Review Green was added to MYO5B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.3 MYO5B Ivone Leong reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.2 MYO5B Ivone Leong gene: MYO5B was added
gene: MYO5B was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: MYO5B was set to