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  3. SLCO2A1
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Autosomal recessive primary hypertrophic osteoarthropathy

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

4 reviews

Achchuthan Shanmugasundram (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: 10 Dec 2025, 2:28 p.m. | Last Modified: 10 Dec 2025, 2:28 p.m.
Panel Version: 1.16
Created: 10 Dec 2025, 2:28 p.m.
Last Modified: 10 Dec 2025, 2:28 p.m.
Panel version: 1.16

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, 9:40 a.m. | Last Modified: 1 May 2025, 9:40 a.m.
Panel Version: 1.13

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 1 May 2025, 9:40 a.m.
Last Modified: 1 May 2025, 9:40 a.m.
Panel version: 1.13

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

in OMIM AD and AR
Created: 30 Dec 2024, noon | Last Modified: 30 Dec 2024, noon
Panel Version: 1.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 30 Dec 2024, noon
Last Modified: 30 Dec 2024, noon
Panel version: 1.12

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: SLCO2A1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 28 Jan 2019, 11:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypertrophic osteoarthropathy, primary, autosomal recessive 2; 614441

Created: 28 Jan 2019, 11:09 a.m.

Panel version: 0.4

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • 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

10 Dec 2025, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_25_ MOI was removed from gene: SLCO2A1.

10 Dec 2025, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene SLCO2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Jul 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 publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLCO2A1 were set to

1 May 2025, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLCO2A1 were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 2 OMIM:614441 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

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SLCO2A1 were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 to Hypertrophic osteoarthropathy, primary, autosomal recessive 2 OMIM:614441

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to SLCO2A1.

28 Jan 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: SLCO2A1 were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 2; 614441 to Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441

28 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SLCO2A1 was added gene: SLCO2A1 was added to Autosomal recessive primary hypertrophic osteoarthropathy. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLCO2A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal recessive 2; 614441