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 3: Obesity syndromes
Level 2: Endocrine disorders
Version 4.10
Latest signed off version: v4.0 (22 Mar 2023)

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