| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Paediatric or syndromic cardiomyopathy v1.67 | FAH | Ivone Leong commented on gene: FAH: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v1.66 | FAH |
Ivone Leong Source Expert Review Amber was added to FAH. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Paediatric or syndromic cardiomyopathy v0.16 | FAH | Ivone Leong reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | FAH | Ivone Leong Source NHS GMS was added to FAH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.1 | FAH |
Ivone Leong gene: FAH was added gene: FAH was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAH were set to 27604308 Phenotypes for gene: FAH were set to Liver failure, vomiting, renal tubulopathy; Tyrosinemia, type I; Tyrosinaemia type 1 (fumarylactoacetase deficiency); HCM |
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