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BabyScreen+ newborn screening v1.114 ATP6V0A4 Tommy Li Added phenotypes Distal renal tubular acidosis 3, with or without sensorineural hearing loss, MIM3 602722 for gene: ATP6V0A4
BabyScreen+ newborn screening v0.1632 ATP6V0A4 Zornitza Stark Tag renal tag was added to gene: ATP6V0A4.
BabyScreen+ newborn screening v0.585 ATP6V0A4 Zornitza Stark Tag for review was removed from gene: ATP6V0A4.
BabyScreen+ newborn screening v0.187 ATP6V0A4 Zornitza Stark Marked gene: ATP6V0A4 as ready
BabyScreen+ newborn screening v0.187 ATP6V0A4 Zornitza Stark Gene: atp6v0a4 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.138 ATP6V0A4 Zornitza Stark Tag for review tag was added to gene: ATP6V0A4.
Tag treatable tag was added to gene: ATP6V0A4.
BabyScreen+ newborn screening v0.138 ATP6V0A4 Zornitza Stark reviewed gene: ATP6V0A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular acidosis, distal, autosomal recessive, MIM#602722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 ATP6V0A4 Zornitza Stark gene: ATP6V0A4 was added
gene: ATP6V0A4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A4 were set to Distal renal tubular acidosis 3, with or without sensorineural hearing loss, MIM3 602722