Cerebral vascular malformations

Gene: TGFB2

Red List (low evidence)

TGFB2 (transforming growth factor beta 2)
EnsemblGeneIds (GRCh38): ENSG00000092969
EnsemblGeneIds (GRCh37): ENSG00000092969
OMIM: 190220, Gene2Phenotype
TGFB2 is in 14 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - red in view limited utility in an isolated cerebrovascular presentation
Created: 29 Nov 2019, 7:08 p.m. | Last Modified: 29 Nov 2019, 7:08 p.m.
Panel Version: 1.67

Alice Gardham (Genomics England)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 4 614816

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Loeys-Dietz syndrome 4 614816
OMIM
190220
Clinvar variants
Variants in TGFB2
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to TGFB2.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TGFB2.

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

14 Dec 2016, Gel status: 4

Added New Source

Alice Gardham (Genomics England)

TGFB2 was added to Cerebrovascular disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN

14 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

TGFB2 was created by agardham