Genomics England
GMS Panels
Panels
Genes and Entities

SLCO2A1

solute carrier organic anion transporter family member 2A1
OMIM: 601460
PanelMode of inheritanceDetails
3 panels
Green
in Autosomal recessive primary hypertrophic osteoarthropathy
R-numbers: R167
Signed-off version 2.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 9.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 9.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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