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| Cholestasis v1.81 | BCS1L | Eleanor Williams Source: Expert Review Amber was removed from gene: BCS1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | BCS1L | Anna de Burca edited their review of gene: BCS1L: Added comment: Following discussion with the NHS GMS gastrohepatology specialist group on 14.01.19, it was agreed that although the phenotype associated with this gene is generally broader than isolated cholestasis, it would be appropriate to include on this panel as this might be the first presenting feature.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.10 | BCS1L |
Ivone Leong Source Other was added to BCS1L. Mode of inheritance for gene BCS1L was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cholestasis; GRACILE syndrome for gene: BCS1L Publications for gene BCS1L were changed from to 11528392; 12215968; 9792866 |
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| Cholestasis v0.4 | BCS1L |
Ivone Leong Source Expert Review Green was added to BCS1L. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cholestasis v0.3 | BCS1L | Ivone Leong reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.2 | BCS1L |
Ivone Leong gene: BCS1L was added gene: BCS1L was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: BCS1L was set to |
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