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  2. Syndromic and non syndromic craniosynostosis involving midline sutures
  3. SMAD6
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Syndromic and non syndromic craniosynostosis involving midline sutures

Gene: SMAD6

Green List (high evidence)
SMAD6 (SMAD family member 6)
EnsemblGeneIds (GRCh38): ENSG00000137834
EnsemblGeneIds (GRCh37): ENSG00000137834
OMIM: 602931, Gene2Phenotype
SMAD6 is in 9 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #617439) and the OMIM record was last accessed on 29 December 2025.
Created: 29 Dec 2025, 1:31 p.m. | Last Modified: 29 Dec 2025, 1:31 p.m.
Panel Version: 1.2
SMAD6 has been added to the panel for R416 Syndromic and non syndromic craniosynostosis involving midline sutures with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 3:45 p.m. | Last Modified: 30 Jun 2023, 3:49 p.m.
Panel Version: 0.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 30 Jun 2023, 3:45 p.m.
Last Modified: 30 Jun 2023, 3:49 p.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • {Craniosynostosis 7, susceptibility to}, OMIM:617439
  • craniosynostosis 7, MONDO:0044315
OMIM
602931
Clinvar variants
Variants in SMAD6
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SMAD6 were changed from to {Craniosynostosis 7, susceptibility to}, OMIM:617439; craniosynostosis 7, MONDO:0044315

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SMAD6 was added gene: SMAD6 was added to Syndromic and non syndromic craniosynostosis involving midline sutures. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted