TXNIP

thioredoxin interacting protein
OMIM: 606599, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber TXNIP in Mendeliome


Version 1.3664

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Metabolic disease MONDO:0005066, TXNIP-related

Amber TXNIP in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.59

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Metabolic disease MONDO:0005066, TXNIP-related