Inflammatory bowel disease
Gene: LY96EnsemblGeneIds (GRCh38): ENSG00000154589
EnsemblGeneIds (GRCh37): ENSG00000154589
OMIM: 605243, Gene2Phenotype
LY96 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Inborn error of immunity, MONDO:0003778, LY96-related
Peter McNaughton (Queensland Children's Hospital)
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: LiteratureCreated: 24 Jan 2023, 3:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Colitis
Publications
- PMID: 36462957
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
-
- PMID: 36462957
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ly96 has been classified as Red List (Low Evidence).
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ly96 has been classified as Red List (Low Evidence).
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