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Primary immunodeficiency

Gene: LRRC32

Red List (low evidence)

LRRC32 (leucine rich repeat containing 32)
EnsemblGeneIds (GRCh38): ENSG00000137507
EnsemblGeneIds (GRCh37): ENSG00000137507
OMIM: 137207, Gene2Phenotype
LRRC32 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Novel candidate gene added by Boaz Palterer. Rating Red as currently there is not enough evidence to support this gene-disease association.

Lehmkuhl et al. 2021 (PMID: 34059789) - 2 unrelated patients with immunodeficiency were found to harbour two rare heterozygous missense variants each in the LRRC32 gene (p.Arg312Cys (recurring), p.Trp247Ter, p.Arg421Gln) - variants were in cis in one patient, but in trans in the other.

Note that a different homozygous founder variant was also found in 2 families with GDD, cleft palate, and proliferative retinopathy (PMID: 30976112) - none of these features were evident in the two cases discussed here.
Created: 9 Jun 2021, 1:24 p.m. | Last Modified: 9 Jun 2021, 1:24 p.m.
Panel Version: 2.426

Boaz Palterer (University of Florence)

Red List (low evidence)

Lehmkuhl et al. described two patients with immune dysregulation and mutations of LRRC32. Both patients carried two rare variants, however, patient 1 has both variants in cis, while patient 2 was a compound heterozygote. Reduced protein expression ex-vivo was demonstrated. Conditional mice KO model recapitulated the phenotype.
Sources: Literature
Created: 7 Jun 2021, 11:33 p.m.

Mode of inheritance
Unknown

Phenotypes
Common variable immunodeficiency; Enteropathy; Lymphopenia; Reduced Tregs

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Common variable immunodeficiency
  • Enteropathy
  • Lymphopenia
  • Reduced Tregs
OMIM
137207
Clinvar variants
Variants in LRRC32
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

9 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: lrrc32 has been classified as Red List (Low Evidence).

7 Jun 2021, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: LRRC32 was added gene: LRRC32 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: LRRC32 was set to Unknown Publications for gene: LRRC32 were set to 34059789 Phenotypes for gene: LRRC32 were set to Common variable immunodeficiency; Enteropathy; Lymphopenia; Reduced Tregs Penetrance for gene: LRRC32 were set to unknown Review for gene: LRRC32 was set to RED