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DDG2P

Gene: SMAD6

Red List (low evidence)

SMAD6 (SMAD family member 6)
EnsemblGeneIds (GRCh38): ENSG00000137834
EnsemblGeneIds (GRCh37): ENSG00000137834
OMIM: 602931, Gene2Phenotype
SMAD6 is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Updated rating of SMAD6 from Amber to Red following a rating change in DD-G2P (DD-G2P panel downloaded May 9th 2019). The original DDG2P Disease confidence of 'probable' was replaced with a new Disease confidence of 'possible' for Non-syndromic craniosynostosis. Mode of inheritance remains as: monoallelic. Mode of pathogenicity/mutation consequence remains as: loss of function.
Created: 9 May 2019, 2:39 p.m.
Original DDG2P rating: probable.
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • Non-syndromic craniosynostosis
OMIM
602931
Clinvar variants
Variants in SMAD6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: smad6 has been classified as Red List (Low Evidence).

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: SMAD6 was added gene: SMAD6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMAD6 were set to 27606499; 28808027 Phenotypes for gene: SMAD6 were set to Non-syndromic craniosynostosis