Limb disordersGene: FSTL5
PMID: 33105483 - Khanshour et al 20201 - GWAS study of isolated Talipes equinovarus (clubfoot, iTEV) identified an associated locus within FSTL5. They show that Fstl5 is expressed in the embryonic hindlimb in bats, chicks and mice. However, Fstl5 was expressed more highly in neural tissues in mice, and rats lacking Fstl5 showed no gross developmental malformations. Conditional overexpression of Fstl5 in osteochondroprogenitors resulted in sexually dimorphic differences in skeletal development in mice.
Not sure about the phenotypic fit for the limb disorders panel but adding as red and will wait for the cases where the clinical phenotype is reported in cases with variants in FSTL5.
Created: 11 Feb 2021, 7:16 p.m.
Mode of inheritance
isolated club-foot; iTEV; Talipes equinovarus
gene: FSTL5 was added gene: FSTL5 was added to Limb disorders. Sources: Literature Mode of inheritance for gene: FSTL5 was set to Unknown Publications for gene: FSTL5 were set to 33105483 Phenotypes for gene: FSTL5 were set to isolated club-foot; iTEV; Talipes equinovarus Review for gene: FSTL5 was set to RED