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  3. BIN1
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Arthrogryposis

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

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Arthrogryposis reported
Sources: Expert list
Created: 22 Mar 2023, 11:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear myopathy 2; OMIM #255200

Created: 22 Mar 2023, 11:24 p.m.

Panel version: 0.365

History Filter Activity

23 Mar 2023, 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).

22 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

22 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

22 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

22 Mar 2023, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: BIN1 was added gene: BIN1 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BIN1 were set to Centronuclear myopathy 2; OMIM #255200 Review for gene: BIN1 was set to GREEN