Muscular dystrophy and myopathy_Paediatric

Gene: BIN1

Green List (high evidence)

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

4 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: ClinGen Definititive for semidominant centronuclear myopathy by the Congenital myopathy GCEP - Classification - 27/04/2020
Created: 9 May 2023, 11:45 p.m. | Last Modified: 9 May 2023, 11:45 p.m.
Panel Version: 0.137

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

PMID: 17676042
3 unrelated consanguineous families with centronuclear myopathy 2.
Age of onset ranged from birth to childhood

PMID: 29950440
Homozygous patients have a more specific and severe phenotype compared to compound heterozygous patients with similar age of onset
Sources: Other
Created: 4 May 2023, 11:25 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Centronuclear myopathy 2 (MONDO: 0009709; MIM#255200)

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: At least two other families from different ethnicities and different variants reported.
Created: 15 Jun 2020, 9:02 a.m. | Last Modified: 15 Jun 2020, 9:02 a.m.
Panel Version: 0.194

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

p.Arg234Cys is a recurring mutation, founding in Roma

PMID: 29950440 - 18 patients (13 families) where most patients presented with proximal limb weakness. Onset ranged from congenital to adulthood (>30 years old), even within the same family.
p.Arg234Cys was found in 16 homozygous patients.

Summary: multiple reports where a majority of patients (8/13) had childhood onset.
Sources: Expert list
Created: 15 Jun 2020, 3:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear myopathy 2 255200

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Centronuclear myopathy 2 (MONDO: 0009709
  • MIM#255200)
OMIM
601248
Clinvar variants
Variants in BIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

9 May 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: BIN1 were set to 17676042; 29950440

9 May 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

4 May 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: BIN1 was added gene: BIN1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: BIN1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: BIN1 were set to 17676042; 29950440 Phenotypes for gene: BIN1 were set to Centronuclear myopathy 2 (MONDO: 0009709; MIM#255200) Review for gene: BIN1 was set to GREEN