Groopman et al 2019 - Genes with diagnostic variantsGene: ATP6V1B1
From Groopman et al 2019 Table S7. Gene symbol: ATP6V1B1; Inhertiance: AR; Clinical diagnosis: Tubulointerstitial disease; Genetic diagnosis: Renal tubular acidosis with deafness; OMIM phenotype MIM no.: 267300; Number of cases: 1 (compound heterozygous)
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
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Source Expert Review Red was added to ATP6V1B1.
gene: ATP6V1B1 was added gene: ATP6V1B1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V1B1 were set to Tubulointerstitial disease; MIM 267300; Renal tubular acidosis with deafness