Inflammatory bowel disease

Gene: SLCO2A1

Green List (high evidence)

SLCO2A1 (solute carrier organic anion transporter family member 2A1)
EnsemblGeneIds (GRCh38): ENSG00000174640
EnsemblGeneIds (GRCh37): ENSG00000174640
OMIM: 601460, Gene2Phenotype
SLCO2A1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

Sources: Literature
Created: 21 Jul 2022, 10:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Enteropathy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related
  • Enteropathy
OMIM
601460
Clinvar variants
Variants in SLCO2A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slco2a1 has been classified as Green List (High Evidence).

25 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLCO2A1 were changed from Enteropathy to Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related; Enteropathy

25 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slco2a1 has been classified as Green List (High Evidence).

21 Jul 2022, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

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