Inherited bleeding disorders

Gene: STXBP2

Green List (high evidence)

STXBP2 (syntaxin binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000076944
EnsemblGeneIds (GRCh37): ENSG00000076944
OMIM: 601717, Gene2Phenotype
STXBP2 is in 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Familial hemophagocytic lymphohistiocytosis type 5

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Only gives a BPD is missense in ATPase domain 218, 219 and 220 ; actually also GOF . As of January 2016 : Published in JCI by Watson group under PMID: 26280575;
Created: 19 Dec 2016, 11:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Familial hemophagocytic lymphohistiocytosis type 5

Publications

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

STXBP2 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

STXBP2 was created by ellenmcdonagh

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

STXBP2 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene