1. Panels
  2. A- or hypo-gammaglobulinaemia
  3. LRRC8A
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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)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

Peter Arkwright (Royal Manchester Foundation Trust)

Red List (low evidence)

Created: 5 Nov 2017, 2:40 a.m.

Panel version: 0

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.
Created: 11 May 2016, 9:59 a.m.

Panel version: 0.117

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