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| Cholestasis v1.47 | IARS |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. Based on the available evidence there is currently not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating. This gene is also Amber on the Neonatal cholestasis panel (v1.4) with the following review: "Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 8 variants reported in 4 unrelated cases. Cholestasis was only evident in 2 of these cases and one of these cases also carried a heterozygous ABCB11 variant, which may contribute to the manifestation of cholestasis. Created: 15 Aug 2018, 1:13 p.m." |
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| Cholestasis v0.21 | ABCB11 | Ivone Leong Marked gene: ABCB11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | ABCB11 | 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 | ABCB11 | Ivone Leong Gene: abcb11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.10 | ABCB11 |
Ivone Leong Source Other was added to ABCB11. Mode of inheritance for gene ABCB11 was changed from to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene ABCB11 was changed from to Other - please provide details in the comments Added phenotypes Familial Intrahepatic Cholestasis; Cholestasis, progressive familial intrahepatic 2, 601847; Cholestasis, Progressive Familial Intrahepatic 2; PFIC2; Cholestasis, benign recurrent intrahepatic, 2, 605479; Neonatal and Adult Cholestasis for gene: ABCB11 |
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| Cholestasis v0.4 | ABCB11 |
Ivone Leong Source Expert Review Green was added to ABCB11. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cholestasis v0.3 | ABCB11 | Ivone Leong reviewed gene: ABCB11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.2 | ABCB11 |
Ivone Leong gene: ABCB11 was added gene: ABCB11 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: ABCB11 was set to |
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