Structural eye disease
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
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
DB Liu: mouse model with microphthalmia, Lindor one case with microphthalmiaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myhre syndrome, 139210
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Liu: mouse model with microphthalmia, Lindor one case with microphthalmiaCreated: 17 Apr 2019, 3:31 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 Amber
- NHS GMS
- Phenotypes
-
- Myhre syndrome, 139210
- OMIM
- 600993
- Clinvar variants
- Variants in SMAD4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ehlers Danlos syndrome with a likely monogenic cause
- Adult solid tumours cancer susceptibility
- Skeletal dysplasia
- Clefting
- Cerebral vascular malformations
- Fetal anomalies
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- GI tract tumours
- Arthrogryposis
- Thoracic aortic aneurysm or dissection (GMS)
- Intellectual disability
- Inherited polyposis and early onset colorectal cancer - germline testing
- Hereditary haemorrhagic telangiectasia
- Structural eye disease
- Pulmonary arterial hypertension
- Thoracic aortic aneurysm or dissection
- Childhood solid tumours
- Inherited bleeding disorders
- DDG2P
- Bleeding and platelet disorders
- Vascular skin disorders
- Childhood solid tumours cancer susceptibility
History Filter Activity
17 Apr 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SMAD4 was added gene: SMAD4 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD4 were set to 11977156; 20735985 Phenotypes for gene: SMAD4 were set to Myhre syndrome, 139210