SMAD3

SMAD family member 3
OMIM: 603109, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red SMAD3 in COVID-19 research Level 2: Viral research Version 1.147	review	Unknown	Sources Literature Other
Red SMAD3 in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Yorkshire and North East GLH NHS GMS Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Loeys-Dietz syndrome 3 613795
Amber SMAD3 in Pneumothorax - familial Level 2: Respiratory Version 3.6 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Amber Expert list Phenotypes Pulmonary emphysema, MONDO:0004849 Loeys-Dietz syndrome type 3, OMIM:613795
Green SMAD3 in Thoracic aortic aneurysm or dissection (GMS) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources North West GLH South West GLH London South GLH Expert Review Green South West GLH London South GLH North West GLH Phenotypes Loeys Dietz syndrome, type 3 (613795) Loeys Dietz syndrome, type 3, 613795
Green SMAD3 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.129	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Loeys Dietz syndrome, type 3, 613795 Loeys Dietz syndrome, type 3 (613795)
Green SMAD3 in Arthrogryposis Level 2: Neurology Version 9.31 Latest signed off version: v9.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Loeys-Dietz syndrome 3 613795
Green SMAD3 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.38 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Expert list Radboud University Medical Center, Nijmegen Phenotypes Loeys-Dietz syndrome 3 613795
Green SMAD3 in Ehlers Danlos syndrome with a likely monogenic cause Level 2: Musculoskeletal Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Illumina TruGenome Clinical Sequencing Services Expert Review Green Expert list Emory Genetics Laboratory Phenotypes Loeys-Dietz syndrome 3, OMIM:613795
Green SMAD3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.169 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes SMAD3-RELATED LOEYS-DIETZ SYNDROME
Amber SMAD3 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.4 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Loeys-Dietz syndrome 3, OMIM:613795
Green SMAD3 in DDG2P Version 6.438 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SMAD3-RELATED LOEYS-DIETZ SYNDROME 319643
Green SMAD3 in Clefting Level 2: Musculoskeletal Version 6.23 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes LOEYS-DIETZ SYNDROME 3 LDS3
Amber SMAD3 in Intellectual disability Level 2: Developmental disorders Version 9.330 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Loeys-Dietz syndrome, type 3, 613795