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  3. TGFBR2
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Fetal anomalies

Gene: TGFBR2

Green List (high evidence)
TGFBR2 (transforming growth factor beta receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000163513
EnsemblGeneIds (GRCh37): ENSG00000163513
OMIM: 190182, Gene2Phenotype
TGFBR2 is in 20 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cleft palate and congenital heart disease.
Created: 23 Feb 2022, 7:14 a.m. | Last Modified: 23 Feb 2022, 7:14 a.m.
Panel Version: 0.4069

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 2 610168

Created: 23 Feb 2022, 7:14 a.m.
Last Modified: 23 Feb 2022, 7:14 a.m.
Panel version: 0.4069

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

no ID as part of phenotype.
Created: 10 Dec 2019, 5:19 a.m. | Last Modified: 10 Dec 2019, 5:19 a.m.
Panel Version: 0.1131

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 2; OMIM #610168

Created: 10 Dec 2019, 5:19 a.m.
Last Modified: 10 Dec 2019, 5:19 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1131

History Filter Activity

23 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tgfbr2 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: TGFBR2 were changed from LOEYS-DIETZ SYNDROME; TGFBR2-RELATED LOEYS-DIETZ SYNDROME to Loeys-Dietz syndrome 2, MIM# 610168

23 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TGFBR2 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: TGFBR2 was added gene: TGFBR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFBR2 were set to LOEYS-DIETZ SYNDROME; TGFBR2-RELATED LOEYS-DIETZ SYNDROME