Skeletal dysplasia
Gene: SLCO2A1
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
>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 LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441
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 SDCreated: 6 Mar 2019, 11:37 a.m.
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.
Tier 1Created: 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
Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441 for gene: SLCO2A1
Source NHS GMS was added to SLCO2A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441
Mode of inheritance for SLCO2A1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SLCO2A1 was added to Unexplained skeletal dysplasiapanel. Sources:
SLCO2A1 was created by sleigh