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  3. SMAD6
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Fetal anomalies

Gene: SMAD6

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

4 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Beth Young (West Midlands Regional Genetics Laboratory)

I don't know

Green on Australian fetal anomalies panel. Green on Limb disorder, skeletal dysplasia and Rare syndromic craniosynostosis or isolated multisuture synostosis UK panels.Prenatal presentation reported by Janssens et al. 2026 in fetus with Borderline ventriculomegaly(11mm),abnormal cavum vergae,persistent left superiorvenacava & slender aorta. Sufficient evidence of prenatal presentation yet?
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brain and cardiac abnormalities; syndromic disease, MONDO:0002254

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Esther Kinning (NHS Greater Glasgow and Clyde)

Red List (low evidence)

Radioulnar synostosis not likely to be seen on scan, craniosynostosis, gene also causes aortopathy adult onset. Red
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Craniosynostosis 7, susceptibility to}, OMIM:617439; Aortic valve disease 2, OMIM:614823; {Radioulnar synostosis, nonsyndromic}, OMIM:179300

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Aortic valve disease 2, OMIM:614823
  • {Radioulnar synostosis, nonsyndromic}, OMIM:179300
  • Brain and cardiac abnormalities
  • syndromic disease, MONDO:0002254
  • {Craniosynostosis 7, susceptibility to}, OMIM:617439
OMIM
602931
Clinvar variants
Variants in SMAD6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Ida Ertmanska (Genomics England Curator)

Source Expert Review Amber was added to SMAD6. Mode of inheritance for gene SMAD6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Brain and cardiac abnormalities; syndromic disease, MONDO:0002254 for gene: SMAD6 Publications for gene: SMAD6 were updated from 22275001; 31138930; 32499606; 27606499 to 27606499; 22275001; 41139937; 32499606; 31138930 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

29 Aug 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SMAD6 was added gene: SMAD6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD6 were set to 22275001; 31138930; 32499606; 27606499 Phenotypes for gene: SMAD6 were set to {Craniosynostosis 7, susceptibility to}, OMIM:617439; Aortic valve disease 2, OMIM:614823; {Radioulnar synostosis, nonsyndromic}, OMIM:179300