Leukodystrophy - adult onset
Gene: STXBP2

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

There is no clear evidence that leukodystrophy is a prominent feature of the condition associated with this gene.
Sources: Expert list
Created: 19 Jan 2020, 9:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemophagocytic lymphohistiocytosis, familial, 5 613101

Created: 19 Jan 2020, 9:51 a.m.

Panel version: 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list

Phenotypes

Hemophagocytic lymphohistiocytosis, familial, 5 613101

OMIM

601717

Clinvar variants

Variants in STXBP2

Penetrance

None

Panels with this gene

History Filter Activity

3 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stxbp2 has been classified as Red List (Low Evidence).

19 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: STXBP2 was added gene: STXBP2 was added to Leukodystrophy - adult onset. Sources: Expert list Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5 613101 Review for gene: STXBP2 was set to RED

Leukodystrophy - adult onset Gene: STXBP2