Inflammatory bowel disease

Gene: LY96

Red List (low evidence)

LY96 (lymphocyte antigen 96)
EnsemblGeneIds (GRCh38): ENSG00000154589
EnsemblGeneIds (GRCh37): ENSG00000154589
OMIM: 605243, Gene2Phenotype
LY96 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Inborn error of immunity, MONDO:0003778, LY96-related

Peter McNaughton (Queensland Children's Hospital)

Red List (low evidence)

Single patient with infantile colitis associated with failure-to-thrive, bloody diarrhea, and perianal abscesses since the age of 4 months. Later developed bronchiectasis and persistent pneumonia, which required lobectomy at the age of 6 years. Brother with same deletion presented with recurrent otitis media and pneumonia but exhibited no signs of intestinal inflammation.
Sources: Literature
Created: 24 Jan 2023, 3:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Colitis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Inborn error of immunity, MONDO:0003778, LY96-related
  • Colitis
OMIM
605243
Clinvar variants
Variants in LY96
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ly96 has been classified as Red List (Low Evidence).

24 Jan 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LY96 were changed from Colitis to Inborn error of immunity, MONDO:0003778, LY96-related; Colitis

24 Jan 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ly96 has been classified as Red List (Low Evidence).

24 Jan 2023, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: LY96 was added gene: LY96 was added to Inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: LY96 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LY96 were set to PMID: 36462957 Phenotypes for gene: LY96 were set to Colitis Review for gene: LY96 was set to RED