KAT2B

lysine acetyltransferase 2B
OMIM: 602303, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red KAT2B in Cataract


Level 2: Ophthalmological disorders
Version 0.373

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • cataract MONDO:0005129, KAT2B-related

Red KAT2B in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related
  • cataract MONDO:0005129, KAT2B-related

Red KAT2B in Proteinuria


Level 2: Renal and urinary tract disorders
Version 0.229

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related