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Fetal anomalies

Gene: BIN1

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variable onset from congenital to childhood. Congenital contractures reported.
Created: 29 Jan 2020, 10:37 a.m. | Last Modified: 9 Nov 2021, 5 a.m.
Panel Version: 0.317

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear myopathy 2, MIM# 255200

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Centronuclear myopathy 2, MIM# 255200
OMIM
601248
Clinvar variants
Variants in BIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BIN1 were set to 17676042; 17676042

9 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BIN1 were changed from CENTRONUCLEAR MYOPATHY 2 to Centronuclear myopathy 2, MIM# 255200

9 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BIN1 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BIN1 was added gene: BIN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BIN1 were set to CENTRONUCLEAR MYOPATHY 2