Muscular dystrophy and myopathy_Paediatric
Gene: BIN1Comment on list classification: ClinGen Definititive for semidominant centronuclear myopathy by the Congenital myopathy GCEP - Classification - 27/04/2020Created: 9 May 2023, 11:45 p.m. | Last Modified: 9 May 2023, 11:45 p.m.
Panel Version: 0.137
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: OtherCreated: 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
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
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 listCreated: 15 Jun 2020, 3:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Centronuclear myopathy 2 255200
Publications
Gene: bin1 has been classified as Green List (High Evidence).
Publications for gene: BIN1 were set to 17676042; 29950440
Gene: bin1 has been classified as Green List (High Evidence).
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