Genomics England
GMS Panels
Panels
Genes and Entities

SMAD6

SMAD family member 6
OMIM: 602931
PanelMode of inheritanceDetails
5 panels
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
radioulnar synostosis
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
metopic synostosis, sagittal synostosis, {Craniosynostosis 7, susceptibility to} 617439
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Radioulnar synostosis, nonsyndromic}, OMIM:179300
Green
in Syndromic and non syndromic craniosynostosis involving midline sutures
R-numbers: R416
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Green
in Thoracic aortic aneurysm or dissection (GMS)
R-numbers: R125
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Aortic valve disease 2 614823