Congenital myopathy

Gene: BIN1

Green List (high evidence)

BIN1 (bridging integrator 1)
EnsemblGeneIds (GRCh38): ENSG00000136717
EnsemblGeneIds (GRCh37): ENSG00000136717
OMIM: 601248, Gene2Phenotype
BIN1 is in 7 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear Myopathy, Recessive; Myopathy, centronuclear, autosomal recessive, 255200

Publications

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear Myopathy, Recessive; Myopathy, centronuclear, autosomal recessive, 255200

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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, Recessive
  • Myopathy, centronuclear, autosomal recessive, 255200
OMIM
601248
Clinvar variants
Variants in BIN1
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to BIN1.

30 Apr 2019, Gel status: 3

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)

22 Feb 2017, Gel status: 4

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.

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Feb 2017, Gel status: 3

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for BIN1 was changed to BIALLELIC, autosomal or pseudoautosomal

13 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

BIN1 was added to Congenital myopathypanel. Sources: Expert

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

BIN1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

BIN1 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

BIN1 was added to Congenital myopathypanel. Sources: UKGTN