| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cholestasis v1.105 | KIF12 | Ivone Leong Tag for-review was removed from gene: KIF12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.105 | KIF12 | Ivone Leong commented on gene: KIF12: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.104 | KIF12 |
Ivone Leong Source Expert Review Green was added to KIF12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cholestasis v1.35 | KIF12 | Ivone Leong Tag for-review tag was added to gene: KIF12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.35 | KIF12 | Ivone Leong Classified gene: KIF12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.35 | KIF12 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. This gene has been given an Amber status and will be promoted to Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.35 | KIF12 | Ivone Leong Gene: kif12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.3 | KIF12 |
Zornitza Stark gene: KIF12 was added gene: KIF12 was added to Cholestasis. Sources: Literature Mode of inheritance for gene: KIF12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF12 were set to 30250217; 30976738 Phenotypes for gene: KIF12 were set to Cholestasis; High Gamma-Glutamyltransferase (GGT) Review for gene: KIF12 was set to GREEN gene: KIF12 was marked as current diagnostic Added comment: Five unrelated consanguineous families, with four different homozygous variants identified, some truncating, others missense. Sources: Literature |
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