| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cholestasis v1.105 | HNF1B | Ivone Leong Tag for-review was removed from gene: HNF1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.105 | HNF1B | Ivone Leong commented on gene: HNF1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.104 | HNF1B |
Ivone Leong Source Expert Review Green was added to HNF1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cholestasis v1.42 | HNF1B | Ivone Leong Classified gene: HNF1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.42 | HNF1B |
Ivone Leong Added comment: Comment on list classification: Comment on list classification: New gene added by Zornitiza Stark. Based on the available evidence there is enough evidence to support a gene-disease association. Therefore, this gene is rated Amber and will be promoted to Green in the next review. This gene is also Green on the Neonatal Cholestasis panel (v1.4) |
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| Cholestasis v1.42 | HNF1B | Ivone Leong Gene: hnf1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.41 | HNF1B | Ivone Leong Tag for-review tag was added to gene: HNF1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.41 | HNF1B | Ivone Leong Phenotypes for gene: HNF1B were changed from Renal cysts and diabetes syndrome, MIM# 137920 to Renal cysts and diabetes syndrome, 137920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.16 | HNF1B |
Zornitza Stark gene: HNF1B was added gene: HNF1B was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNF1B were set to 28324003; 29727438; 30791938; 25741167 Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, MIM# 137920 Review for gene: HNF1B was set to GREEN Added comment: Multiple case reports of cholestasis in individuals with HNF1B-related disease. Sources: Expert list |
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