SH2B1

SH2B adaptor protein 1
OMIM: 608937, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SH2B1 in Mendeliome


Version 2.144

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994

Green SH2B1 in Monogenic Diabetes


Level 2: Endocrine disorders
Version 1.1

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994

    Green SH2B1 in Severe early-onset obesity


    Level 2: Endocrine disorders
    Version 2.1

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994