ATP6V0A4

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green ATP6V0A4 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular acidosis, distal, autosomal recessive, MIM#602722 Tags treatable
Red ATP6V0A4 in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes renal tubular acidosis, distal, 3, with or without sensorineural hearing loss MONDO:0011268
Green ATP6V0A4 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	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 1.1566	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 BabyScreen+ newborn screening Level 2: Screening Version 1.116	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 1.17 Component of the following Super Panels: Kidneyome_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular acidosis, distal, autosomal recessive, MIM#602722