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Fetal anomalies

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 1 panel

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Added to Fetal anomalies panel based on Saunders et al., 2012 (PMID:23035047) who report BCL9L as a heterotaxy gene in a pedigree (2 affected brothers- heterozygous in unaffected parents). Rated as Amber based on advice from Anna de Burca (Genomics England clinical team) who notes additional functional evidence in zebrafish.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy

Publications

Details

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

History Filter Activity

25 Jul 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: BCL9L was added gene: BCL9L was added to Fetal anomalies. Sources: Literature,Expert Review Amber Mode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCL9L were set to 23035047 Phenotypes for gene: BCL9L were set to Heterotaxy