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  2. Pulmonary Arterial Hypertension
  3. SMAD1
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Pulmonary Arterial Hypertension

Gene: SMAD1

Red List (low evidence)
SMAD1 (SMAD family member 1)
EnsemblGeneIds (GRCh38): ENSG00000170365
EnsemblGeneIds (GRCh37): ENSG00000170365
OMIM: 601595, Gene2Phenotype
SMAD1 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

DISPUTED by ClinGen.
Created: 8 Aug 2023, 6:14 a.m. | Last Modified: 8 Aug 2023, 6:14 a.m.
Panel Version: 1.31

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pulmonary arterial hypertension MONDO:0015924, SMAD1-related

Created: 8 Aug 2023, 6:14 a.m.
Last Modified: 8 Aug 2023, 6:14 a.m.
Panel version: 1.31

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Comment on list classification: Disputed gene curation by ClinGen PH VCEP 21/11/2022
Created: 19 Jun 2023, 7:20 a.m. | Last Modified: 19 Jun 2023, 7:20 a.m.
Panel Version: 1.17
One missense variant identified in a PAH case. Mouse model is consistent with pulmonary hypertension.
Sources: Literature
Created: 28 Jan 2020, 12:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Pulmonary arterial hypertension

Publications

Created: 28 Jan 2020, 12:48 a.m.

Panel version: 0.33

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, SMAD1-related
Tags
disputed
OMIM
601595
Clinvar variants
Variants in SMAD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2023, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: SMAD1.

8 Aug 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMAD1 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, SMAD1-related

19 Jun 2023, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: smad1 has been classified as Red List (Low Evidence).

27 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smad1 has been classified as Amber List (Moderate Evidence).

28 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: smad1 has been classified as Amber List (Moderate Evidence).

28 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SMAD1 was added gene: SMAD1 was added to Pulmonary Arterial Hypertension. Sources: Literature Mode of inheritance for gene: SMAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMAD1 were set to 21898662; 23478097 Phenotypes for gene: SMAD1 were set to Pulmonary arterial hypertension Review for gene: SMAD1 was set to AMBER