Angelman Rett like syndromes
Gene: STXBP1EnsemblGeneIds (GRCh38): ENSG00000136854
EnsemblGeneIds (GRCh37): ENSG00000136854
OMIM: 602926, Gene2Phenotype
STXBP1 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple individuals with STXBP1 variants reported in MECP2-negative Rett syndrome/Rett-like cohort.Created: 25 Oct 2020, 10:55 a.m. | Last Modified: 25 Oct 2020, 10:55 a.m.
Panel Version: 0.21
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 4, MIM# 612164
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Developmental and epileptic encephalopathy 4, MIM# 612164
- OMIM
- 602926
- Clinvar variants
- Variants in STXBP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Clefting disorders
- Angelman Rett like syndromes
- Additional findings_Paediatric
- Mendeliome
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Callosome
- Genetic Epilepsy
- Cerebral Palsy
- Autism
- Early-onset Parkinson disease
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: stxbp1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: STXBP1 were changed from to Developmental and epileptic encephalopathy 4, MIM# 612164
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: STXBP1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: STXBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: STXBP1 was added gene: STXBP1 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STXBP1 was set to Unknown