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Unexplained young onset end-stage renal disease v4.3 | FAH | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: FAH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v4.3 | FAH | Arina Puzriakova reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v4.2 | FAH |
Achchuthan Shanmugasundram Source Expert Review Green was added to FAH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Unexplained young onset end-stage renal disease v3.21 | FAH | Achchuthan Shanmugasundram reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Tyrosinemia, type I, OMIM:276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v3.20 | FAH | Achchuthan Shanmugasundram Phenotypes for gene: FAH were changed from Tyrosinemia, type I,OMIM:276700 to Tyrosinemia, type I, OMIM:276700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v3.19 | FAH | Achchuthan Shanmugasundram Phenotypes for gene: FAH were changed from Tyrosinemia, type I to Tyrosinemia, type I,OMIM:276700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v3.18 | FAH | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: FAH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Unexplained young onset end-stage renal disease v3.17 | FAH |
Achchuthan Shanmugasundram gene: FAH was added gene: FAH was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to Tyrosinemia, type I |