Defects of intrinsic and innate immunity
Gene: LY96EnsemblGeneIds (GRCh38): ENSG00000154589
EnsemblGeneIds (GRCh37): ENSG00000154589
OMIM: 605243, Gene2Phenotype
LY96 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Only a single family reported. The IUIS IEI committee categorises this gene as TLR Signaling Pathway Deficiency.
Sources: Expert listCreated: 15 Dec 2024, 11:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Inborn error of immunity, MONDO:0003778, LY96-related
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Inborn error of immunity, MONDO:0003778, LY96-related
- OMIM
- 605243
- Clinvar variants
- Variants in LY96
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ly96 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: LY96 was added gene: LY96 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: LY96 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LY96 were set to 36462957 Phenotypes for gene: LY96 were set to Inborn error of immunity, MONDO:0003778, LY96-related Review for gene: LY96 was set to RED