| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypophosphataemia or rickets v2.14 | FAH | Ivone Leong Tag to_be_confirmed_NHSE tag was added to gene: FAH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.14 | FAH | Ivone Leong Classified gene: FAH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.14 | FAH |
Ivone Leong Added comment: Comment on list classification: This gene is associated with an appropriate phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. FAH causes type I tyrosinemia and hypophosphataemic rickets is a feature of chronic disease, but patients present with liver phenotypes at the beginning before developing hypophosphataemic rickets. After consultation with the Genomics England Clinical Team, I have given this gene an Amber gene rating and tagged with "for-review" so that GMS experts can consider this gene in the scope of testing for the next iteration. This gene is already Green on Undiagnosed metabolic disorders (v1.431) and Inborn errors of metabolism (v2.33) panels |
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| Hypophosphataemia or rickets v2.14 | FAH | Ivone Leong Gene: fah has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.13 | FAH | Ivone Leong Tag for-review tag was added to gene: FAH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.13 | FAH | Ivone Leong Phenotypes for gene: FAH were changed from Tyrosinemia, type I, 276700 to Tyrosinemia, type I, OMIM:276700, MONDO:0010161 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.8 | FAH | Ivone Leong Phenotypes for gene: FAH were changed from Tyrosinemia, type I, MIM# 276700 to Tyrosinemia, type I, 276700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.5 | FAH |
Zornitza Stark gene: FAH was added gene: FAH was added to Hypophosphataemia or rickets. Sources: Expert list Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to Tyrosinemia, type I, MIM# 276700 Review for gene: FAH was set to GREEN Added comment: Hypophosphataemic rickets is a feature of this metabolic disorder. Sources: Expert list |
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