Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

Gene: SMAD6

Amber List (moderate evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Tracy Lester (Genetics laboratory, Oxford UK). This gene is associated with a phenotype in OMIM and Gene2Phenotype.

Based on the available evidence it is recommended that this gene be given Green status at the next review.
Created: 1 Feb 2021, 11:33 a.m. | Last Modified: 1 Feb 2021, 11:33 a.m.
Panel Version: 2.81

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

SMAD6 is frequently mutated in non-syndromic radioulnar synostosis.Using exome seq the authors found 16 LOF and 6 rare missense variants in sporadic cases, which was a highly significant association. The findings were replicated in a different cohort. Four cases had de novo variants and others were inherited in a dominant fashion.
SMAD6 LOF variants have also been shown to be enriched in mid-line craniosynostosis and in certain cardiac disorders. It isn't yet clear if a variant can cause different phenotypes in the same family or combinations of these phenotypes in the same individual. Genotype-phenotype correlation is not understood.
This gene is currently tested diagnostically in cases of mid-line craniosynostosis and is green on panel R100.
Sources: NHS GMS
Created: 30 Jan 2021, 10:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Radioulnar synostosis

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Radioulnar synostosis
Tags
for-review
OMIM
602931
Clinvar variants
Variants in SMAD6
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: smad6 has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: SMAD6.

30 Jan 2021, Gel status: 0

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

Tracy Lester (Genetics laboratory, Oxford UK)

gene: SMAD6 was added gene: SMAD6 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD6 were set to 31138930 Phenotypes for gene: SMAD6 were set to Radioulnar synostosis Penetrance for gene: SMAD6 were set to Incomplete Review for gene: SMAD6 was set to GREEN