1. Panels
  2. Diabetes with additional phenotypes suggestive of a monogenic aetiology
  3. LRBA
STRs in panel
Prev Next

Diabetes with additional phenotypes suggestive of a monogenic aetiology

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 12 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to expert review - Sian Ellard (University of Exeter Medical School).
Created: 23 Aug 2016, 11:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency, common variable, 8, with autoimmunity

Publications

Created: 23 Aug 2016, 11:45 a.m.

Panel version: 1.8

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Variants in this gene are reported as part of current diagnostic practice
Created: 16 Oct 2015, 10:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 16 Oct 2015, 10:36 a.m.

Panel version: Imported from "Familial diabetes" panel version 0

History Filter Activity

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LRBA was created by ellenmcdonagh

23 Aug 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LRBA was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review