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Arthrogryposis

Gene: SMAD4

Green List (high evidence)

SMAD4 (SMAD family member 4)
EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 25 panels

1 review

Alice Gardham (Genomics England)

I don't know

Comment on list classification: Made green after internal discussion.
Created: 16 Jan 2017, 11:59 a.m.
?joint stiffness rather than arthrogryposis
Created: 11 Jan 2017, 1:26 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myhre syndrome 139210

Publications

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

16 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

11 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

SMAD4 was created by agardham

11 Jan 2017, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

SMAD4 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen