1. Panels
  2. Fetal anomalies
  3. TGFBR1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: TGFBR1

Green List (high evidence)
TGFBR1 (transforming growth factor beta receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000106799
EnsemblGeneIds (GRCh37): ENSG00000106799
OMIM: 190181, Gene2Phenotype
TGFBR1 is in 19 panels

3 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Two siblings reported with biallelic type of TGFBR1-related disease. Each born at 38 weeks had aortic root dilation, congenital diaphragmatic hernia (CDH), skin translucency, and profound joint laxity at birth.
Created: 5 Jan 2023, 3:32 a.m. | Last Modified: 5 Jan 2023, 3:32 a.m.
Panel Version: 1.82

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Loeys-Dietz syndrome 1, MIM# 609192

Publications

Created: 5 Jan 2023, 3:32 a.m.
Last Modified: 5 Jan 2023, 3:32 a.m.
Panel version: 1.82

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cleft palate and congenital heart disease.
Created: 23 Feb 2022, 7:15 a.m. | Last Modified: 23 Feb 2022, 7:15 a.m.
Panel Version: 0.4071

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 1, MIM# 609192

Created: 23 Feb 2022, 7:15 a.m.
Last Modified: 23 Feb 2022, 7:15 a.m.
Panel version: 0.4071

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

no ID as part of phenotype.
Created: 10 Dec 2019, 5:20 a.m. | Last Modified: 10 Dec 2019, 5:20 a.m.
Panel Version: 0.1133

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 1; OMIM #609192

Created: 10 Dec 2019, 5:20 a.m.
Last Modified: 10 Dec 2019, 5:20 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1133

History Filter Activity

5 Jan 2023, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

Mode of inheritance for gene: TGFBR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

23 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tgfbr1 has been classified as Green List (High Evidence).

23 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TGFBR1 were changed from LOEYS-DIETZ SYNDROME TYPE 2A; AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5; LOEYS-DIETZ SYNDROME TYPE 1A to Loeys-Dietz syndrome 1, MIM# 609192

23 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TGFBR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TGFBR1 was added gene: TGFBR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFBR1 were set to LOEYS-DIETZ SYNDROME TYPE 2A; AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5; LOEYS-DIETZ SYNDROME TYPE 1A