Activity
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6 actions
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| Ataxia and cerebellar anomalies - narrow panel v8.67 | FTH1 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FTH1. Tag Q1_25_ promote_green was removed from gene: FTH1. |
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| Ataxia and cerebellar anomalies - narrow panel v8.67 | FTH1 | Achchuthan Shanmugasundram reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.65 | FTH1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FTH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v7.16 | FTH1 |
Sarah Leigh Tag Q4_24_promote_green was removed from gene: FTH1. Tag Q1_25_ NHS_review tag was added to gene: FTH1. Tag Q1_25_ promote_green tag was added to gene: FTH1. |
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| Ataxia and cerebellar anomalies - narrow panel v7.16 | FTH1 | Sarah Leigh Entity copied from Iron metabolism disorders - NOT common HFE mutations v2.12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v7.16 | FTH1 |
Sarah Leigh gene: FTH1 was added gene: FTH1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: North West GLH,NHS GMS,Expert Review Amber,Yorkshire and North East GLH,London South GLH,Wessex and West Midlands GLH Q4_24_promote_green tags were added to gene: FTH1. Mode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FTH1 were set to 11389486; 37660254; 37265023 Phenotypes for gene: FTH1 were set to Neurodegeneration with brain iron accumulation 9, OMIM:620669; ?Hemochromatosis, type 5 OMIM:615517; hemochromatosis type 5 MONDO:0014225 |
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