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  3. SLCO2A1
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Skeletal dysplasia

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 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Primary hypertrophic osteoarthropathy is a rare disorder characterized by digital clubbing, pachydermia, and periostosis. Multiple families with both mono-allelic and bi-allelic variants reported.
Created: 25 Jun 2021, 12:14 a.m. | Last Modified: 25 Jun 2021, 12:14 a.m.
Panel Version: 0.104

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

Created: 25 Jun 2021, 12:14 a.m.
Last Modified: 25 Jun 2021, 12:14 a.m.
Panel version: 0.104

Details

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

History Filter Activity

25 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slco2a1 has been classified as Green List (High Evidence).

25 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLCO2A1 were set to

25 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLCO2A1 was added gene: SLCO2A1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green 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; Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441