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| Groopman et al 2019 - Genes with diagnostic variants v0.4 | NF1 | Eleanor Williams reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.4 | HNF1B | Eleanor Williams reviewed gene: HNF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.4 | HNF1A | Eleanor Williams reviewed gene: HNF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.3 | NF1 |
Eleanor Williams Source Expert Review Amber was added to NF1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Groopman et al 2019 - Genes with diagnostic variants v0.3 | HNF1B | Eleanor Williams Source Expert Review Red was added to HNF1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.3 | HNF1A |
Eleanor Williams Source Expert Review Green was added to HNF1A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | NF1 |
Eleanor Williams gene: NF1 was added gene: NF1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Exper review amber Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NF1 were set to Congenital or cystic renal disease; MIM 162200; Neurofibromatosis type 1 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | HNF1B |
Eleanor Williams gene: HNF1B was added gene: HNF1B was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HNF1B were set to Congenital or cystic renal disease; MIM 137920; Renal cysts and diabetes syndrome |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | HNF1A |
Eleanor Williams gene: HNF1A was added gene: HNF1A was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HNF1A were set to MODY type III; Nephropathy of unknown origin; Diabetic nephropathy; MIM 600496 |
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