Clefting
Gene: STXBP1

STXBP1 (syntaxin binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000136854
EnsemblGeneIds (GRCh37): ENSG00000136854
OMIM: 602926, Gene2Phenotype
STXBP1 is in 6 panels

1 review

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Red List (low evidence)

Heterozygous mutations in STXBP1 cause Epileptic encephalopathy. Cleft is not part of the syndrome and has been reported only in one patient carrying a 2.85 Mb deletion encompassing 70 genes, including both STXBP1
Created: 31 May 2017, 11:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4

Created: 31 May 2017, 11:25 a.m.

Panel version: 0.287

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red

Phenotypes

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4
EIEE4

OMIM

602926

Clinvar variants

Variants in STXBP1

Penetrance

Complete

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STXBP1 was added to Cleftingpanel. Sources: Expert Review Red

31 May 2017, Gel status: 0

Created