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BabyScreen+ newborn screening

Gene: BIN1

Red List (low 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)

Red List (low evidence)

Established gene-disease association.

Onset from congenital to childhood.

No specific treatment available.
Created: 24 Sep 2022, 5:15 a.m. | Last Modified: 24 Sep 2022, 5:15 a.m.
Panel Version: 0.195

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear myopathy 2, MIM# 255200

Details

History Filter Activity

24 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bin1 has been classified as Red List (Low Evidence).

24 Sep 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BIN1 were changed from Myopathy, centronuclear, autosomal recessive to Centronuclear myopathy 2, MIM# 255200

24 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bin1 has been classified as Red List (Low Evidence).

18 Sep 2022, 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 gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive