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| Cholestasis v0.21 | SLC25A13 | Ivone Leong Marked gene: SLC25A13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | SLC25A13 | 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 | SLC25A13 | Ivone Leong Gene: slc25a13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.10 | SLC25A13 |
Ivone Leong Source Other was added to SLC25A13. Mode of inheritance for gene SLC25A13 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY; NICCD; Citrullinemia type 2, neonatal onset; Citrullinemia type 2, adult onset; Citrullinemia, adult-onset type II 603471; Citrullinemia, type II, neonatal-onset 605814; Neonatal and Adult Cholestasis for gene: SLC25A13 Publications for gene SLC25A13 were changed from to 11343052; 11281457; 12424587 |
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| Cholestasis v0.4 | SLC25A13 |
Ivone Leong Source Expert Review Green was added to SLC25A13. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cholestasis v0.3 | SLC25A13 | Ivone Leong reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.2 | SLC25A13 |
Ivone Leong gene: SLC25A13 was added gene: SLC25A13 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: SLC25A13 was set to |
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