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| Cholestasis v0.15 | PEX12 | Ivone Leong Marked gene: PEX12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.15 | PEX12 | 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call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green based on unpublished data from patient cohort from USA (2,000 patients at Emory) that this is one of the Zellweger genes with significant prevalence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.15 | PEX12 | Ivone Leong Gene: pex12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.10 | PEX12 |
Ivone Leong Source Other was added to PEX12. Mode of inheritance for gene PEX12 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 3B 266510; Peroxisome biogenesis disorder 3A (Zellweger) 614859 for gene: PEX12 Publications for gene PEX12 were changed from to 9090384; 9354782 |
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| Cholestasis v0.4 | PEX12 |
Ivone Leong Source Expert Review Green was added to PEX12. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cholestasis v0.3 | PEX12 | Ivone Leong reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.2 | PEX12 |
Ivone Leong gene: PEX12 was added gene: PEX12 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: PEX12 was set to |
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