PanelApp (stage)
  1. Genes and Genomic Entities
  2. NKX2-2

NKX2-2

NK2 homeobox 2
OMIM: 604612, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green NKX2-2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment

Green NKX2-2 in Monogenic Diabetes


Level 2: Endocrine disorders
Version 0.134

Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment