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Cholestasis v0.21 | VPS33B | Ivone Leong Marked gene: VPS33B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v0.21 | VPS33B | 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 | VPS33B | Ivone Leong Gene: vps33b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v0.10 | VPS33B |
Ivone Leong Source Other was added to VPS33B. Mode of inheritance for gene VPS33B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes arthrogryposis-renal-cholestasis syndrome; Arthrogryposis, renal dysfunction, and cholestasis 1, 208085; Arthrogryposis, Renal Dysfunction, and Cholestasis 1; Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome; ARC syndrome; Neonatal and Adult Cholestasis; Arthrogryposis, Renal Dysfunction, And Cholestasis 1 for gene: VPS33B |
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Cholestasis v0.4 | VPS33B |
Ivone Leong Source Expert Review Green was added to VPS33B. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Cholestasis v0.3 | VPS33B | Ivone Leong reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v0.2 | VPS33B |
Ivone Leong gene: VPS33B was added gene: VPS33B was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: VPS33B was set to |