Can be associated with congenital contractures
Created: 5 Jan 2017, 10:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Loeys-Dietz syndrome 2 610168
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for TGFBR2 were set to Loeys-Dietz syndrome 2 610168
Publications for TGFBR2 were set to 15731757
TGFBR2 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
TGFBR2 was added to Arthrogryposispanel. Sources: Expert list
TGFBR2 was created by ellenmcdonagh