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  3. TGFB2
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Fetal anomalies

Gene: TGFB2

Green List (high evidence)
TGFB2 (transforming growth factor beta 2)
EnsemblGeneIds (GRCh38): ENSG00000092969
EnsemblGeneIds (GRCh37): ENSG00000092969
OMIM: 190220, Gene2Phenotype
TGFB2 is in 12 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.
Created: 29 Apr 2019, 12:28 p.m.
Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LOEYS-DIETZ SYNDROME, TYPE 4.
Created: 12 Feb 2019, 2:32 p.m.
Rating in original PAGE file: 'both DD and IF' for LOEYS-DIETZ SYNDROME, TYPE 4
Created: 6 Dec 2018, 10:07 a.m.
Created: 6 Dec 2018, 10:07 a.m.

Panel version: 0.222

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LOEYS-DIETZ SYNDROME, TYPE 4
OMIM
190220
Clinvar variants
Variants in TGFB2
Penetrance
None
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Green was added to TGFB2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

12 Feb 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to TGFB2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: TGFB2 was added gene: TGFB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFB2 were set to LOEYS-DIETZ SYNDROME, TYPE 4