Congenital Diarrhoea
Gene: STXBP2EnsemblGeneIds (GRCh38): ENSG00000076944
EnsemblGeneIds (GRCh37): ENSG00000076944
OMIM: 601717, Gene2Phenotype
STXBP2 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variants in STXBP2 do not only affect cytotoxic T lymphocytes (causing HLH) but also cause changes in the intestinal epithelium resulting in severe, osmotic diarrhoea. More than 10 individuals reported with severe enteropathy, resembling MVID.
Sources: Expert ReviewCreated: 4 Jan 2021, 11:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101; Enteropathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101
- Enteropathy
- OMIM
- 601717
- Clinvar variants
- Variants in STXBP2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: stxbp2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: stxbp2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: STXBP2 was added gene: STXBP2 was added to Congenital Diarrhoea. Sources: Expert Review Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STXBP2 were set to 23382066; 28724787; 29266534 Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101; Enteropathy Review for gene: STXBP2 was set to GREEN