SLC10A7

solute carrier family 10 member 7
OMIM: 611459
PanelMode of inheritanceDetails
4 panels
R-numbers: R340
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
skeletal dysplasia and amelogenesis imperfecta, Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363, short stature, amelogenesis imperfect hypo mineralised, skeletal dysplasia, scoliosis
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chondrodysplasia with multiple dislocations and amelogenesis imperfecta
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chondrodysplasia with multiple dislocations and amelogenesis imperfecta
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
skeletal dysplasia and amelogenesis imperfecta, Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363