Can be associated with congenital contractures
Created: 5 Jan 2017, 10:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Loeys-Dietz syndrome 1 609192
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 TGFBR1 were set to Loeys-Dietz syndrome 1 609192
Publications for TGFBR1 were set to 15731757
TGFBR1 was added to Arthrogryposispanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
TGFBR1 was created by ellenmcdonagh
TGFBR1 was added to Arthrogryposispanel. Sources: Expert list