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Arthrogryposis

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 15 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Can be associated with congenital contractures
Created: 5 Jan 2017, 10:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 2 610168

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Loeys-Dietz syndrome 2 610168
OMIM
190182
Clinvar variants
Variants in TGFBR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

5 Jan 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for TGFBR2 were set to Loeys-Dietz syndrome 2 610168

5 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for TGFBR2 were set to 15731757

5 Jan 2017, Gel status: 4

Upload gene information

Alice Gardham (Genomics England)

TGFBR2 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TGFBR2 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TGFBR2 was created by ellenmcdonagh