Heterotaxy
Gene: BCL9L
Further animal studies supporting role in cardiac development.Created: 25 Oct 2021, 7:14 a.m. | Last Modified: 25 Oct 2021, 7:14 a.m.
Panel Version: 1.8
Phenotypes
Congenital heart defects
Publications
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, OtherCreated: 25 Oct 2021, 6:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Heterotaxy; Congenital Heart Disease
Publications
Gene: bcl9l has been classified as Amber List (Moderate Evidence).
Publications for gene: BCL9L were set to 23035047; 8757136
Gene: bcl9l has been classified as Amber List (Moderate Evidence).
gene: BCL9L was added gene: BCL9L was added to Heterotaxy. 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 Heterotaxy; Congenital Heart Disease Review for gene: BCL9L was set to AMBER