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STRs in panel
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Primary immunodeficiency

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

5 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Original metadata downloaded from ESID Registry. ESID_Gene_original: LRRC8, PanelApp HGNC gene symbol check: LRRC8A, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Agammaglobulinemias / Agammaglobulinemia
Created: 17 Apr 2018, 12:29 p.m.

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


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.


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • ESID Registry 20171117
  • A- or hypo-gammaglobulinaemia v1.25
  • Expert Review Red
  • Agammaglobulinemia 5, 613506
  • Agammaglobulinemia
Clinvar variants
Variants in LRRC8A
Panels with this gene

History Filter Activity

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to LRRC8A. Panel: Primary immunodeficiency disorders Phenotypes for gene LRRC8A were set to Agammaglobulinemia 5, 613506, Agammaglobulinemia

29 Mar 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

LRRC8A was added to Primary immunodeficiency disorders panel. Sources: Expert Review Red, A- or hypo-gammaglobulinaemia v1.25

29 Mar 2018, Gel status: 1


Louise Daugherty (Genomics England Curator)

LRRC8A was created by Louise Daugherty