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Mendeliome

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 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single case reported with a reciprocal translocation, t(9;20)(q33.2;q12), and demonstrated truncation of the LRRC8A gene. No other supporting evidence could be identified.
Created: 18 Mar 2021, 4:45 a.m. | Last Modified: 18 Mar 2021, 4:45 a.m.
Panel Version: 0.6766

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Agammaglobulinemia 5 MIM#613506

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
OMIM
608360
Clinvar variants
Variants in LRRC8A
Penetrance
None
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lrrc8a has been classified as Red List (Low Evidence).

18 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lrrc8a has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRRC8A was added gene: LRRC8A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LRRC8A was set to Unknown