ATP6V0A4

ATPase H+ transporting V0 subunit a4
OMIM: 605239, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ATP6V0A4 in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal tubular acidosis, distal, autosomal recessive, MIM#602722
Tags
  • treatable

Green ATP6V0A4 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Renal tubular acidosis, distal, autosomal recessive, 602722 (3)

Green ATP6V0A4 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Distal renal tubular acidosis 3, with or without sensorineural hearing loss MIM#602722

Green ATP6V0A4 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Distal renal tubular acidosis 3, with or without sensorineural hearing loss, MIM3 602722
Tags
  • treatable
  • renal

Green ATP6V0A4 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal tubular acidosis, distal, autosomal recessive, MIM#602722