Congenital ophthalmoplegia
Gene: BIN1
BIN1 (bridging integrator 1)
EnsemblGeneIds (GRCh38): ENSG00000136717
EnsemblGeneIds (GRCh37): ENSG00000136717
OMIM: 601248, Gene2Phenotype
BIN1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000136717
EnsemblGeneIds (GRCh37): ENSG00000136717
OMIM: 601248, Gene2Phenotype
BIN1 is in 10 panels
1 review
Shannon LeBlanc (Victorian Clinical Genetics Services)
Wide range at onset from neonatal to adulthood with usually mild, slowly progressive proximal limb weakness and ophthalmoparesis
Sources: LiteratureCreated: 20 Dec 2020, 9:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Centronuclear myopathy 2, MIM 255200
Publications
- PMID 29950440
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Centronuclear myopathy 2, MIM 255200
- OMIM
- 601248
- Clinvar variants
- Variants in BIN1
- Penetrance
- None
- Publications
-
- PMID 29950440
- Panels with this gene
History Filter Activity
22 Dec 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bin1 has been classified as Green List (High Evidence).
22 Dec 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bin1 has been classified as Green List (High Evidence).
20 Dec 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Shannon LeBlanc (Victorian Clinical Genetics Services)gene: BIN1 was added gene: BIN1 was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BIN1 were set to PMID 29950440 Phenotypes for gene: BIN1 were set to Centronuclear myopathy 2, MIM 255200 Review for gene: BIN1 was set to GREEN