Congenital ophthalmoplegia

Gene: BIN1

Green List (high evidence)

BIN1 (bridging integrator 1)
EnsemblGeneIds (GRCh38): ENSG00000136717
EnsemblGeneIds (GRCh37): ENSG00000136717
OMIM: 601248, Gene2Phenotype
BIN1 is in 10 panels

1 review

Shannon LeBlanc (Victorian Clinical Genetics Services)

Green List (high evidence)

Wide range at onset from neonatal to adulthood with usually mild, slowly progressive proximal limb weakness and ophthalmoparesis
Sources: Literature
Created: 20 Dec 2020, 9:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear myopathy 2, MIM 255200

Publications

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