TGFBR2:Ensemblv115

transforming growth factor beta receptor 2
OMIM: 190182, ClinGen, DECIPHER

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green TGFBR2 in Vasculitis Level 2: Immunological disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green TGFBR2 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Loeys-Dietz syndrome 2, MIM# 610168
Green TGFBR2 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Loeys-Dietz syndrome 2, MIM# 610168
Green TGFBR2 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Loeys-Dietz syndrome 2, MIM# 610168
Green TGFBR2 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Loeys-Dietz syndrome 2, MIM# 610168
Green TGFBR2 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Phenotypes LOEYS-DIETZ SYNDROME
Green TGFBR2 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green TGFBR2 in Incidentalome Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Loeys-Dietz syndrome 2 , MIM#610168 Tags cardiac
Green TGFBR2 in Additional findings_Adult Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Melbourne Genomics Health Alliance Expert Review Green Phenotypes Loeys-Dietz syndrome 2, MIM# 610168
Green TGFBR2 in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Loeys-Dietz syndrome 2 MIM#610168
Green TGFBR2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Loeys-Dietz syndrome 2 610168
Red TGFBR2 in CGC_86 Version 1.0	0 reviews	Other	Sources CGC_86 Phenotypes NA
Green TGFBR2 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Loeys-Dietz syndrome Loeys-Dietz syndrome 2, 610168
Green TGFBR2 in Fetal anomalies Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Genomics England PanelApp Expert Review Green Phenotypes Loeys-Dietz syndrome 2, MIM# 610168
Green TGFBR2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Loeys-Dietz syndrome 2, MIM# 610168 Tags cardiac treatable
Green TGFBR2 in Pneumothorax Level 3: Structural lung disorders Level 2: Respiratory disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green NHS GMS Phenotypes Pulmonary emphysema, MONDO:0004849 Loeys-Dietz syndrome type 2, OMIM:610168
Green TGFBR2 in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Loeys-Dietz syndrome 2, MIM# 610168