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Intellectual disability syndromic and non-syndromic

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)

ID is generally not part of the phenotype of this myopathy, mild ID reported in one individual only.
Created: 29 Jan 2020, 10:37 a.m. | Last Modified: 29 Jan 2020, 10:37 a.m.
Panel Version: 0.1766

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Centronuclear myopathy 2, MIM# 255200

Details

History Filter Activity

29 Jan 2020, 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).

29 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

29 Jan 2020, 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).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BIN1 was added gene: BIN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BIN1 was set to Unknown