A- or hypo-gammaglobulinaemia

Gene: LRRC8A

Red List (low evidence)

LRRC8A (leucine rich repeat containing 8 VRAC subunit A)
EnsemblGeneIds (GRCh38): ENSG00000136802
EnsemblGeneIds (GRCh37): ENSG00000136802
OMIM: 608360, Gene2Phenotype
LRRC8A is in 2 panels

4 reviews

Tracy Briggs (Manchester Genomic Medicine Centre)

Red List (low evidence)

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Peter Arkwright (Royal Manchester Foundation Trust)

Red List (low evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Three negative expert reviews. No disease association on Gen2Phen. LRRC8A truncated as a result of a reciprocal translocation in one patien in publication
Created: 11 May 2016, 9:59 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Agammaglobulinemia 5, 613506
OMIM
608360
Clinvar variants
Variants in LRRC8A
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Jun 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for LRRC8A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 May 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

LRRC8A was added to A- or hypo-gammaglobulinaemiapanel. Sources: Radboud University Medical Center, Nijmegen