Congenital myopathy
Gene: BIN1EnsemblGeneIds (GRCh38): ENSG00000136717
EnsemblGeneIds (GRCh37): ENSG00000136717
OMIM: 601248, Gene2Phenotype
BIN1 is in 5 panels
5 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on mode of inheritance: Only one case with monoallelic BIN1 variant has been reported with childhood-onset myopathy. As there are not sufficient cases, the MOI should remain as "BIALLELIC, autosomal or pseudoautosomal" for now.
"watchlist_moi" tag has been added to review the MOI when new evidence becomes available.Created: 4 Apr 2023, 1:47 p.m. | Last Modified: 4 Apr 2023, 1:47 p.m.
Panel Version: 4.25
PMID:29103045 reported a Dutch family with monoallelic variant in BIN1 gene (c.53T>A (p.Val18Glu)). The main features were mild proximal weakness with pronounced myalgia, exercise intolerance and large muscle mass, with a childhood onset in the youngest generation and mild cognitive features.
However, PMID:25260562 and PMID:27854204 reported patients with monoallelic variants presenting with mild and adult-onset centronuclear myopathy with myalgia and CK elevation.
Disease caused only by biallelic inheritance (and not by monoallelic inheritance) has currently been reported in OMIM and Gene2Phenotype.Created: 4 Apr 2023, 1:44 p.m. | Last Modified: 4 Apr 2023, 1:44 p.m.
Panel Version: 4.24
Publications
Louise Daugherty (Genomics England Curator)
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Rachael Mein (Viapath at Guy's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Centronuclear Myopathy, Recessive; Myopathy, centronuclear, autosomal recessive, 255200
Publications
Anna Sarkozy (Great Ormond Street Hospital)
Adult-onset autosomal dominant centronuclear myopathy, also with myalgia and CK elevationCreated: 24 Mar 2023, 11:24 a.m. | Last Modified: 24 Mar 2023, 11:24 a.m.
Panel Version: 4.2
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Centronuclear Myopathy, Recessive; Myopathy, centronuclear, autosomal recessive, 255200; dominant centronuclear myopathy
Publications
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Biallelic cases reported with appropriate phenotype for inclusion.Created: 2 Feb 2017, 11:03 a.m.
Comment on mode of inheritance: This is appropriate for the birth - childhood onset cases. AD inheritance reported but mild and adult onset. Therefore biallelic MOI is appropriate.Created: 2 Feb 2017, 11:02 a.m.
4 separate families with homozygous mutations found in association with the phenotype via OMIM.
I have included monoallelic inheritance in the MOI in view of 2016 case report of AD inheritance (PMID 27854204) and also cases from 2014 (PMID 25260562). The latter includes 5 families with 9 cases in whom heterozygous mutations were identified. However, OMIM only has AR inheritance listed.Created: 23 Jan 2017, 4:55 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, centronuclear, autosomal recessive 255200
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London South GLH
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Centronuclear myopathy 2, OMIM:255200
- Tags
- OMIM
- 601248
- Clinvar variants
- Variants in BIN1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag watchlist_moi tag was added to gene: BIN1.
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: BIN1 were set to 17676042; 27854204; 25260562
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: BIN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: BIN1 were set to
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BIN1 were changed from Centronuclear Myopathy, Recessive; Myopathy, centronuclear, autosomal recessive, 255200 to Centronuclear myopathy 2, OMIM:255200
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to BIN1.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London South GLH was added to BIN1. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for BIN1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Eik Haraldsdottir (Genomics England)BIN1 was added to Congenital myopathypanel. Sources: Expert
Added New Source
GEL ()BIN1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()BIN1 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()BIN1 was added to Congenital myopathypanel. Sources: UKGTN