This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: SMAD4
SMAD4 (SMAD family member 4)
EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 23 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Acromelic dysplasias gp of SD - several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myhre syndrome 139210
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Myhre syndrome 139210
- OMIM
- 600993
- Clinvar variants
- Variants in SMAD4
- Penetrance
- None
- Panels with this gene
-
- Vascular skin disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Pulmonary arterial hypertension
- Bleeding and platelet disorders
- Clefting
- Structural eye disease
- Skeletal dysplasia
- Cerebral vascular malformations
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Childhood solid tumours
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
- Inherited polyposis and early onset colorectal cancer - germline testing
- Hereditary haemorrhagic telangiectasia
- Childhood solid tumours cancer susceptibility
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: SMAD4 was added gene: SMAD4 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD4 were set to Myhre syndrome 139210