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Prepair 1000+

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

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Centronuclear myopathy is characterised by progressive muscle weakness and wasting of the skeletal muscles. Weakness may be present from birth, begin in childhood or adolescence or become evident in the third decade of life. Some people will require a wheelchair in adulthood. Ptosis and weakness in facial muscles, including the muscles that control eye movement, is common. Some people experience breathing problems. Some affected individuals have foot abnormalities, a high-arched palate, or scoliosis. Less commonly, affected individuals have cardiomyopathy, neuropathy, or intellectual disability.

HGNC approved symbol/name: BIN1
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 21 Nov 2024, 3:04 a.m. | Last Modified: 21 Nov 2024, 3:04 a.m.
Panel Version: 1.581

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear myopathy 2, MIM# 255200

Publications

Created: 21 Nov 2024, 3:04 a.m.
Last Modified: 21 Nov 2024, 3:04 a.m.
Panel version: 1.581

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Centronuclear myopathy 2, MIM# 255200
OMIM
601248
Clinvar variants
Variants in BIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: bin1 has been classified as Green List (High Evidence).

28 Nov 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: BIN1 were changed from Myopathy, centronuclear, autosomal recessive, 255200 (3) to Centronuclear myopathy 2, MIM# 255200

28 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: BIN1 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BIN1 was added gene: BIN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive, 255200 (3)