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Mendeliome

Gene: STXBP2

Green List (high evidence)

STXBP2 (syntaxin binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000076944
EnsemblGeneIds (GRCh37): ENSG00000076944
OMIM: 601717, Gene2Phenotype
STXBP2 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 23 Mar 2022, 5:22 a.m. | Last Modified: 23 Mar 2022, 5:22 a.m.
Panel Version: 0.11808

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101
OMIM
601717
Clinvar variants
Variants in STXBP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stxbp2 has been classified as Green List (High Evidence).

23 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STXBP2 were changed from to Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101

23 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STXBP2 were set to

23 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: STXBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STXBP2 was added gene: STXBP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STXBP2 was set to Unknown