Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: LRBA

Green List (high evidence)

LRBA (LPS responsive beige-like anchor protein)
EnsemblGeneIds (GRCh38): ENSG00000198589
EnsemblGeneIds (GRCh37): ENSG00000198589
OMIM: 606453, Gene2Phenotype
LRBA is in 13 panels

2 reviews

Neil shah (GOSH)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and G2P / DD (Probable). Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Six different homozygous variants reported.
Created: 5 Sep 2016, 6:58 a.m.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Immunodeficiency, common variable, 8, with autoimmunity (CVID 8) 614700
OMIM
606453
Clinvar variants
Variants in LRBA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 3

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

2 Sep 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

LRBA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN

2 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity (CVID 8) 614700

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LRBA was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LRBA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list