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Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: LY9

No list

LY9 (lymphocyte antigen 9)
EnsemblGeneIds (GRCh38): ENSG00000122224
EnsemblGeneIds (GRCh37): ENSG00000122224
OMIM: 600684, Gene2Phenotype
LY9 is in 1 panel

1 review

Boaz Palterer (University of Florence)

Green List (high evidence)

Ogishi et al. described 3 subjects from 3 kindreds with homozygous LOF mutations in LY9 presenting with tuberculosis in a large TB cohort, notably no homozygous LOF was found in a large control cohort. Extensive ex-vivo and in vivo functional validation.
Sources: Literature
Created: 24 Jun 2026, 1:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tubercolosis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Tubercolosis
OMIM
600684
Clinvar variants
Variants in LY9
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

24 Jun 2026, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: LY9 was added gene: LY9 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: LY9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LY9 were set to 40446017 Phenotypes for gene: LY9 were set to Tubercolosis Penetrance for gene: LY9 were set to unknown Review for gene: LY9 was set to GREEN