Skeletal dysplasia

Gene: SLCO2A1

Green List (high evidence)

in OMIM AD and AR

Created: 30 Dec 2024, 11:59 a.m. | Last Modified: 30 Dec 2024, 11:59 a.m.

Panel Version: 7.5

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Green List (high evidence)

Multiple families with both mono-allelic and bi-allelic variants reported.

Created: 8 Jul 2021, 8:18 a.m. | Last Modified: 8 Jul 2021, 8:18 a.m.

Panel Version: 2.105

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100; Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441

Publications

• 23509104
• 27134495
• 33852188
• 22331663
• 27134495

Green List (high evidence)

>3 cases. Primary hypertrophic osteoarthropathy (PHO), which is also known as pachydermoperiostosis, is a rare genetic disease that affects the skin and bones. PHO is characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and skin manifestations; Review on behalf of Tracy Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SLCO2A1; Initial rating suggestion: green if SD

Created: 6 Mar 2019, 11:37 a.m.

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, 9:41 a.m. | Last Modified: 1 May 2025, 9:41 a.m.

Panel Version: 8.4

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)

Created: 21 Jun 2016, 1:09 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Green List (high evidence)

Tier 1

Created: 17 Jun 2016, 8:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441

Variants in this GENE are reported as part of current diagnostic practice