KAT2B

lysine acetyltransferase 2B
OMIM: 602303, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red KAT2B in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.11
Latest signed off version: v7.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • cataract, MONDO:0005129
  • Cataract, HP:0000518
Amber KAT2B in Proteinuric renal disease


Level 2: Renal
Version 5.10
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • steroid-resistant nephrotic syndrome, MONDO:0044765