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Mendeliome

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)

PMID 29313109: Over 40 Japanese individuals reported with bi-allelic variants in this gene and multiple small intestinal ulcers of nonspecific histology. Some overlap with the hypertrophic osteoarthropathy also associated with bi-allelic variants in this gene. Mild digital clubbing or periostosis was found in 13 patients (28%), with five male patients fulfilling the major diagnostic criteria of PHO.
Created: 25 Jul 2022, 9:38 p.m. | Last Modified: 25 Jul 2022, 9:38 p.m.
Panel Version: 1.171
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, 12:12 a.m. | Last Modified: 25 Jun 2021, 12:12 a.m.
Panel Version: 0.8108

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; Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100
  • Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441
  • Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related
OMIM
601460
Clinvar variants
Variants in SLCO2A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLCO2A1 were changed from Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100; Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441 to Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100; Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related

25 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLCO2A1 were set to 23509104; 27134495; 33852188; 22331663; 27134495

8 Jul 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 Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLCO2A1 were changed from to Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100; Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441

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 Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLCO2A1 was added gene: SLCO2A1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLCO2A1 was set to Unknown