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Fetal anomalies

Gene: TGFB3

Green List (high evidence)

TGFB3 (transforming growth factor beta 3)
EnsemblGeneIds (GRCh38): ENSG00000119699
EnsemblGeneIds (GRCh37): ENSG00000119699
OMIM: 190230, Gene2Phenotype
TGFB3 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cleft palate and congenital heart disease are features.
Created: 15 Feb 2022, 7:22 a.m. | Last Modified: 15 Feb 2022, 7:22 a.m.
Panel Version: 0.3512

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 5, MIM# 615582

History Filter Activity

15 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tgfb3 has been classified as Green List (High Evidence).

15 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TGFB3 were changed from LOEYS-DIETZ SYNDROME to Loeys-Dietz syndrome 5, MIM# 615582

15 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TGFB3 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: TGFB3 was added gene: TGFB3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFB3 were set to LOEYS-DIETZ SYNDROME