STXBP3

syntaxin binding protein 3
OMIM: 608339, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green STXBP3 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Inborn error of immunity, MONDO:0003778, STXBP3-related

Green STXBP3 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Inborn error of immunity, MONDO:0003778, STXBP3-related

Green STXBP3 in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Inborn error of immunity, MONDO:0003778, STXBP3-related