Intestinal failure or congenital diarrhoea
Gene: IL37EnsemblGeneIds (GRCh38): ENSG00000125571
EnsemblGeneIds (GRCh37): ENSG00000125571
OMIM: 605510, Gene2Phenotype
IL37 is in 2 panels
1 review
Arina Puzriakova (Genomics England Curator)
Single family reported with homozygous truncating variant this gene and infantile-onset of IBD, some functional data.
Sources: LiteratureCreated: 27 Apr 2021, 2:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile inflammatory bowel disease
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Phenotypes
-
- Infantile inflammatory bowel disease
- OMIM
- 605510
- Clinvar variants
- Variants in IL37
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: IL37 was added gene: IL37 was added to Intestinal failure. Sources: Literature Mode of inheritance for gene: IL37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL37 were set to 33674380 Phenotypes for gene: IL37 were set to Infantile inflammatory bowel disease Review for gene: IL37 was set to RED