Inflammatory bowel disease
Gene: SLCO2A1
Over 40 Japanese individuals reported with bi-allelic variants in this gene and multiple small intestinal ulcers of nonspecific histology.
Some overlap with the hypertrophic osteoarthropathy also associated with bi-allelic variants in this gene. Mild digital clubbing or periostosis was found in 13 patients (28%), with five male patients fulfilling the major diagnostic criteria of PHO.Created: 25 Jul 2022, 9:21 a.m. | Last Modified: 25 Jul 2022, 9:22 a.m.
Panel Version: 0.78
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related
Sources: LiteratureCreated: 21 Jul 2022, 10:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Enteropathy
Publications
Gene: slco2a1 has been classified as Green List (High Evidence).
Phenotypes for gene: SLCO2A1 were changed from Enteropathy to Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related; Enteropathy
Gene: slco2a1 has been classified as Green List (High Evidence).
gene: SLCO2A1 was added gene: SLCO2A1 was added to Inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: SLCO2A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLCO2A1 were set to PMID: 29313109 Phenotypes for gene: SLCO2A1 were set to Enteropathy Review for gene: SLCO2A1 was set to GREEN