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  3. SLCO2A1
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Primary immunodeficiency or monogenic 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 4 panels

3 reviews

Ida Ertmanska (Genomics England Curator)

The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 11 Mar 2026, 1:46 p.m. | Last Modified: 11 Mar 2026, 1:46 p.m.
Panel Version: 8.82
Created: 11 Mar 2026, 1:46 p.m.
Last Modified: 11 Mar 2026, 1:46 p.m.
Panel version: 8.82

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

SLCO2A1 variants are associated with autosomal recessive and autosomal dominant forms of primary hypertrophic osteoarthropathy (OMIM:614441, OMIM:167100) in numerous cases (PMID:23509104; 27134495; 33852188; 22331663; 27134495).
Created: 1 May 2025, 9:56 a.m. | Last Modified: 1 May 2025, 9:56 a.m.
Panel Version: 8.3

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 1 May 2025, 9:56 a.m.
Last Modified: 1 May 2025, 9:56 a.m.
Panel version: 8.3

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 8 Mar 2022, 3:09 p.m. | Last Modified: 8 Mar 2022, 3:09 p.m.
Panel Version: 2.536
Created: 8 Mar 2022, 3:09 p.m.
Last Modified: 8 Mar 2022, 3:09 p.m.
Panel version: 2.536

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hypertrophic osteoarthropathy, primary, autosomal recessive 2 OMIM:614441
  • hypertrophic osteoarthropathy, primary, autosomal recessive, 2, MONDO:0013756
  • Hypertrophic osteoarthropathy, primary, autosomal dominant, OMIM:167100
  • hypertrophic osteoarthropathy, primary, autosomal dominant, MONDO:0008172
OMIM
601460
Clinvar variants
Variants in SLCO2A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Mar 2026, Gel status: 3

Removed Tag

Ida Ertmanska (Genomics England Curator)

Tag Q2_25_ MOI was removed from gene: SLCO2A1.

11 Mar 2026, Gel status: 3

Added New Source, Set mode of inheritance

Ida Ertmanska (Genomics England Curator)

Source NHS GMS was added to SLCO2A1. Mode of inheritance for gene SLCO2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

29 Oct 2025, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_25_expert_review was removed from gene: SLCO2A1.

1 May 2025, Gel status: 3

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_25_ MOI tag was added to gene: SLCO2A1. Tag Q2_25_expert_review tag was added to gene: SLCO2A1.

1 May 2025, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLCO2A1 were changed from Prostaglandin transporter deficiency to Hypertrophic osteoarthropathy, primary, autosomal recessive 2 OMIM:614441; hypertrophic osteoarthropathy, primary, autosomal recessive, 2, MONDO:0013756; Hypertrophic osteoarthropathy, primary, autosomal dominant, OMIM:167100; hypertrophic osteoarthropathy, primary, autosomal dominant, MONDO:0008172

1 May 2025, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLCO2A1 were set to 29313109

8 Mar 2022, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: SLCO2A1 was added gene: SLCO2A1 was added to Primary immunodeficiency. Sources: Expert Review Green Mode of inheritance for gene: SLCO2A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLCO2A1 were set to 29313109 Phenotypes for gene: SLCO2A1 were set to Prostaglandin transporter deficiency