Comment on list classification: Changed from Green to Red. LDS is associated with clefting.
Created: 29 Aug 2018, 1:12 p.m.
Comment on publications: added mouse model paper PMID: 12975342
Created: 14 Aug 2018, 10:10 a.m.
Historically, Loeys-Dietz syndrome has been divided into subtypes, of which LDS type I is associated with craniofacial features including cleft palate and LDS type II has minimal or absent craniofacial features. Although LDS type I has been said to be more commonly associated with variants in TGFBR1, PMID:16928994 found TGFBR2 variants in 21/30 patients with LDS type I.
Created: 7 Aug 2018, 12:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: tgfbr2 has been classified as Green List (High Evidence).
Publications for gene: TGFBR2 were set to 15731757; 16928994; 12975342
Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome; Loeys-Dietz syndrome 2, 610168
TGFBR2 was added to Clefting panel. Sources: Expert Review
TGFBR2 was created by Anna de Burca