Pulmonary Arterial Hypertension
Gene: SMAD4EnsemblGeneIds (GRCh38): ENSG00000141646
EnsemblGeneIds (GRCh37): ENSG00000141646
OMIM: 600993, Gene2Phenotype
SMAD4 is in 23 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
DISPUTED by ClinGen.Created: 8 Aug 2023, 6:15 a.m. | Last Modified: 8 Aug 2023, 6:15 a.m.
Panel Version: 1.32
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pulmonary arterial hypertension MONDO:0015924, SMAD4-related
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Disputed classification by ClinGen PH GCEP 21/11/2022Created: 19 Jun 2023, 7:21 a.m. | Last Modified: 19 Jun 2023, 7:21 a.m.
Panel Version: 1.18
Comment on list classification: Two reported cases with PAHCreated: 28 Jan 2020, 12:54 a.m. | Last Modified: 28 Jan 2020, 12:54 a.m.
Panel Version: 0.36
A missense with reduced in vitro signalling activity and a putative splice site mutation resulting in moderate transcript loss due to compromised splicing efficiency were identified in two PAH cases.
Sources: LiteratureCreated: 28 Jan 2020, 12:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MIM#175050; Pulmonary arterial hypertension
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Pulmonary arterial hypertension MONDO:0015924, SMAD4-related
- Tags
- OMIM
- 600993
- Clinvar variants
- Variants in SMAD4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- Clefting disorders
- Hereditary Haemorrhagic Telangiectasia
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Pulmonary Arterial Hypertension
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Colorectal Cancer and Polyposis
- Cancer Predisposition_Paediatric
- Hand and foot malformations
- Skeletal Dysplasia_Fetal
- Vascular Malformations_Germline
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Additional findings_Adult
- Congenital Heart Defect
- Arthrogryposis
- Mendeliome
- Aortopathy_Connective Tissue Disorders
- Cerebral vascular malformations
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MIM#175050; Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, SMAD4-related
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag disputed tag was added to gene: SMAD4.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: smad4 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smad4 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: smad4 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SMAD4 was added gene: SMAD4 was added to Pulmonary Arterial Hypertension. Sources: Literature Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMAD4 were set to 21898662 Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MIM#175050; Pulmonary arterial hypertension Review for gene: SMAD4 was set to AMBER