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  2. Hereditary Spastic Paraplegia - paediatric
  3. STXBP1
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Hereditary Spastic Paraplegia - paediatric

Gene: STXBP1

Red List (low evidence)
STXBP1 (syntaxin binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000136854
EnsemblGeneIds (GRCh37): ENSG00000136854
OMIM: 602926, Gene2Phenotype
STXBP1 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Variants in STXBP1 are associated with developmental epileptic encephalopathy. Single case report of DD/spasticity as predominant features.
Created: 20 Sep 2020, 6:57 a.m. | Last Modified: 20 Sep 2020, 6:57 a.m.
Panel Version: 0.136

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spasticity

Publications

Created: 20 Sep 2020, 6:57 a.m.
Last Modified: 20 Sep 2020, 6:57 a.m.
Panel version: 0.139

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Spasticity
  • Early infantile epileptic encephalopathy 4
OMIM
602926
Clinvar variants
Variants in STXBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stxbp1 has been classified as Red List (Low Evidence).

20 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stxbp1 has been classified as Amber List (Moderate Evidence).

20 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STXBP1 were changed from Early infantile epileptic encephalopathy 4 to Spasticity; Early infantile epileptic encephalopathy 4

20 Sep 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STXBP1 were set to

20 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stxbp1 has been classified as Amber List (Moderate Evidence).

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: STXBP1 was added gene: STXBP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: STXBP1 were set to Early infantile epileptic encephalopathy 4