SH2B1

SH2B adaptor protein 1
OMIM: 608937, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber SH2B1 in Severe early-onset obesity


Level 2: Endocrinology
Version 5.21
Latest signed off version: v5.0 (30 Apr 2025)

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