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COVID-19 research

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

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
Phenotypes
  • Agammaglobulinemia 5, 613506
  • Agammaglobulinemia
OMIM
608360
Clinvar variants
Variants in LRRC8A
Penetrance
None
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: LRRC8A was added gene: LRRC8A was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117,A- or hypo-gammaglobulinaemia v1.25 Mode of inheritance for gene: LRRC8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LRRC8A were set to Agammaglobulinemia 5, 613506; Agammaglobulinemia