Research panel - Severe Paediatric Disorders
Gene: SLCO2A1

SLCO2A1 (solute carrier organic anion transporter family member 2A1)
EnsemblGeneIds (GRCh38): ENSG00000174640
EnsemblGeneIds (GRCh37): ENSG00000174640
OMIM: 601460, Gene2Phenotype
SLCO2A1 is in 4 panels

2 reviews

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, 10:05 a.m. | Last Modified: 1 May 2025, 10:05 a.m.

Panel Version: 1.211

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 1 May 2025, 10:05 a.m.
Last Modified: 1 May 2025, 10:05 a.m.
Panel version: 1.211

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SLCO2A1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:25 p.m.
Last Modified: 20 Feb 2020, 5:25 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

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

1 May 2025, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLCO2A1 were set to 30847515

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, 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

20 Feb 2020, Gel status: 3