STXBP1:Ensemblv115

syntaxin binding protein 1
OMIM: 602926, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green STXBP1 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 3.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Phenotypes Developmental and epileptic encephalopathy 4, MIM# 612164 Juvenile onset Parkinsonism
Green STXBP1 in Angelman Rett like syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Developmental and epileptic encephalopathy 4, MIM# 612164
Green STXBP1 in Autism Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green STXBP1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Developmental and epileptic encephalopathy 4, MIM# 612164
Green STXBP1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes Developmental and epileptic encephalopathy 4, MIM# 612164
Green STXBP1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Red STXBP1 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Red Phenotypes Spasticity Early infantile epileptic encephalopathy 4
Red STXBP1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes EIEE4 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4