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Severe Paediatric Disorders

Gene: STXBP2

Green List (high evidence)

STXBP2 (syntaxin binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000076944
EnsemblGeneIds (GRCh37): ENSG00000076944
OMIM: 601717, Gene2Phenotype
STXBP2 is in 9 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: STXBP2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3); Mode of inheritance: ND
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 5, 613101
OMIM
601717
Clinvar variants
Variants in STXBP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene STXBP2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, 613101 for gene: STXBP2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, 613101 for gene: STXBP2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, 613101 for gene: STXBP2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, 613101 for gene: STXBP2

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene STXBP2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, 613101 for gene: STXBP2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to STXBP2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to STXBP2. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: STXBP2 was added gene: STXBP2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: STXBP2 was set to