SLC26A2

solute carrier family 26 member 2
OMIM: 606718
PanelMode of inheritanceDetails
5 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofacial Clefting with skeletal features, Atelosteogenesis II (includes clefting), 256050, De la Chapelle dysplasia (includes clefting), 256050, McAlister Dysplasia, Diastrophic dysplasia (includes clefting), 222600, Diastrophic dysplasia, broad bonehplatyspondylic variant, 222600, DIASTROPHIC DYSPLASIA, DTD
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACHONDROGENESIS TYPE 1B 600972, MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 226900, ATELOSTEOGENESIS TYPE 2 256050, DIASTROPHIC DYSPLASIA 222600
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4, ACHONDROGENESIS TYPE 1B, ATELOSTEOGENESIS TYPE 2, DIASTROPHIC DYSPLASIA
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diastrophic dysplasia, broad bone-platyspondylic variant, Diastrophic dysplasia, Epiphyseal dysplasia, multiple, 4, Atelosteogenesis, type II
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ACG1B,DD,rMED, multiple epiphyseal dysplasia, Multiple Epiphyseal Dysplasia, Recessive, Epiphyseal dysplasia, multiple, 4