Familial non syndromic congenital heart disease

Gene: SMAD6

Red List (low evidence)

SMAD6 (SMAD family member 6)
EnsemblGeneIds (GRCh38): ENSG00000137834
EnsemblGeneIds (GRCh37): ENSG00000137834
OMIM: 602931, Gene2Phenotype
SMAD6 is in 8 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Only three reported patients -two with aortic stenosis. Not recognised on G2P
Created: 30 Nov 2016, 11:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aortic valve disease 2, 614823

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Aortic valve disease 2, 614823
OMIM
602931
Clinvar variants
Variants in SMAD6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

30 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

30 Nov 2016, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

SMAD6 was added to Familial non syndromic congenital heart diseasepanel. Sources: Literature,Radboud University Medical Center, Nijmegen

30 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

SMAD6 was created by agardham