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| Cholestasis v0.21 | HSD3B7 | Ivone Leong Marked gene: HSD3B7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | HSD3B7 | 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 | HSD3B7 | Ivone Leong Gene: hsd3b7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.10 | HSD3B7 |
Ivone Leong Source Other was added to HSD3B7. Mode of inheritance for gene HSD3B7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bile acid sythesis defect, congenital, 1 607765; Neonatal and Adult Cholestasis for gene: HSD3B7 Publications for gene HSD3B7 were changed from to 12679481; 11067870 |
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| Cholestasis v0.4 | HSD3B7 |
Ivone Leong Source Expert Review Green was added to HSD3B7. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cholestasis v0.3 | HSD3B7 | Ivone Leong reviewed gene: HSD3B7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.2 | HSD3B7 |
Ivone Leong gene: HSD3B7 was added gene: HSD3B7 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: HSD3B7 was set to |
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