PANK4

pantothenate kinase 4
OMIM: 606162, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber PANK4 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Congenital posterior cataract
Tags
  • watchlist