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| Groopman et al 2019 - Genes with diagnostic variants v0.4 | SLC4A1 | Eleanor Williams reviewed gene: SLC4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.3 | SLC4A1 | Eleanor Williams Source Expert Review Red was added to SLC4A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.2 | SLC4A1 |
Eleanor Williams gene: SLC4A1 was added gene: SLC4A1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: SLC4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC4A1 were set to Tubulointerstitial disease; Renal tubular acidosis distal, autosomal dominant; MIM 179800 |
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