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Cholestasis v0.21 | CYP27A1 | Ivone Leong Marked gene: CYP27A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v0.21 | CYP27A1 | 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 | CYP27A1 | Ivone Leong Gene: cyp27a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v0.10 | CYP27A1 |
Ivone Leong Source Other was added to CYP27A1. Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Severe neonatal cholestasis; Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1 Publications for gene CYP27A1 were changed from to 9186905; 28937538; 16278884; 11903362; 8514861; 2019602; 12000359; 7915755 |
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Cholestasis v0.4 | CYP27A1 |
Ivone Leong Source Expert Review Green was added to CYP27A1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Cholestasis v0.3 | CYP27A1 | Ivone Leong reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v0.2 | CYP27A1 |
Ivone Leong gene: CYP27A1 was added gene: CYP27A1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: CYP27A1 was set to |