TXNIP

thioredoxin interacting protein
OMIM: 606599, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TXNIP in Mendeliome


Version 2.612

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Metabolic disease MONDO:0005066, TXNIP-related

Green TXNIP in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.9

Component of the following Super Panels:

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

    Amber TXNIP in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.148

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

    Green TXNIP in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 2.3

    Component of the following Super Panels:

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