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  3. STXBP1
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Fetal anomalies

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Clinical presentation is typically post-natal.
Created: 15 Feb 2022, 12:33 a.m. | Last Modified: 15 Feb 2022, 12:33 a.m.
Panel Version: 0.3417

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 4 (MIM#612164)

Created: 15 Feb 2022, 12:33 a.m.
Last Modified: 15 Feb 2022, 12:33 a.m.
Panel version: 0.3417

Daniel Flanagan (Victorian Clinical Genetics Services)

Red List (low evidence)

Both monoallelic and biallelic variants cause epileptic encephalopathy. Multiple families reported.
Created: 14 Feb 2022, 12:21 a.m. | Last Modified: 14 Feb 2022, 12:21 a.m.
Panel Version: 0.3382

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 4 (MIM#612164)

Publications

Created: 14 Feb 2022, 12:21 a.m.
Last Modified: 14 Feb 2022, 12:21 a.m.
Panel version: 0.3382

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Developmental and epileptic encephalopathy 4 (MIM#612164)
OMIM
602926
Clinvar variants
Variants in STXBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Feb 2022, 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).

15 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STXBP1 were changed from ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER; EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4 to Developmental and epileptic encephalopathy 4 (MIM#612164)

15 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STXBP1 were set to

15 Feb 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: STXBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STXBP1 was added gene: STXBP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: STXBP1 were set to ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER; EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4