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Arthrogryposis

Gene: BIN1

Red List (low evidence)

BIN1 (bridging integrator 1)
EnsemblGeneIds (GRCh38): ENSG00000136717
EnsemblGeneIds (GRCh37): ENSG00000136717
OMIM: 601248, Gene2Phenotype
BIN1 is in 6 panels

1 review

Alice Gardham (Genomics England)

I don't know

Comment on list classification: Not associated with arthrogryposis
Created: 22 Dec 2016, 9:11 a.m.
Not associated with arthrogryposis
Created: 22 Dec 2016, 9:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, centronuclear, autosomal recessive 255200

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
  • Expert list
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

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

22 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 3

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

BIN1 was added to Arthrogryposispanel. Source: UKGTN BIN1 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services BIN1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen BIN1 was added to Arthrogryposispanel. Source: Expert Model of inheritance for gene BIN1 was set to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BIN1 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BIN1 was created by ellenmcdonagh