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  3. BCL9L
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Congenital Heart Defect

Gene: BCL9L

Amber List (moderate evidence)
BCL9L (B-cell CLL/lymphoma 9 like)
EnsemblGeneIds (GRCh38): ENSG00000186174
EnsemblGeneIds (GRCh37): ENSG00000186174
OMIM: 609004, Gene2Phenotype
BCL9L is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Further animal studies supporting role in cardiac development.
Created: 25 Oct 2021, 7:13 a.m. | Last Modified: 25 Oct 2021, 7:13 a.m.
Panel Version: 0.131

Phenotypes
Congenital heart defects

Publications

Created: 25 Oct 2021, 7:13 a.m.
Last Modified: 25 Oct 2021, 7:13 a.m.
Panel version: 0.131

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

Novel gene disease association. Saunders et al. 2012 (PMID: 23035047) report biallelic BCL9L variants in 2 affected brothers with heterotaxy and congenital heart disease, heterozygous in unaffected parents. Functional evidence in zebrafish (PMID 8757136)
Sources: Expert list, Literature, Other
Created: 25 Oct 2021, 6:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Heart Disease; Heterotaxy

Publications

Created: 25 Oct 2021, 6:49 a.m.

Panel version: 0.131

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Literature
  • Expert list
Phenotypes
  • Congenital Heart Disease
  • Heterotaxy
OMIM
609004
Clinvar variants
Variants in BCL9L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bcl9l has been classified as Amber List (Moderate Evidence).

25 Oct 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BCL9L were set to 23035047; 8757136

25 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bcl9l has been classified as Amber List (Moderate Evidence).

25 Oct 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: BCL9L was added gene: BCL9L was added to Congenital Heart Defect. Sources: Expert list,Literature,Other Mode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCL9L were set to 23035047; 8757136 Phenotypes for gene: BCL9L were set to Congenital Heart Disease; Heterotaxy Review for gene: BCL9L was set to AMBER