Arthrogryposis
Gene: SMAD4EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 23 panels
1 review
Alice Gardham (Genomics England)
Comment on list classification: Made green after internal discussion.Created: 16 Jan 2017, 11:59 a.m.
?joint stiffness rather than arthrogryposisCreated: 11 Jan 2017, 1:26 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myhre syndrome 139210
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Myhre syndrome 139210
- OMIM
- 600993
- Clinvar variants
- Variants in SMAD4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Vascular skin disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Pulmonary arterial hypertension
- Bleeding and platelet disorders
- DDG2P
- Intellectual disability
- Clefting
- Cerebral vascular malformations
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Arthrogryposis
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Skeletal dysplasia
- Hereditary haemorrhagic telangiectasia
- Childhood solid tumours cancer susceptibility
History Filter Activity
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Alice Gardham (Genomics England)SMAD4 was created by agardham
Added New Source
Alice Gardham (Genomics England)SMAD4 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen