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Limb disorders

Gene: FSTL5

Red List (low evidence)

FSTL5 (follistatin like 5)
EnsemblGeneIds (GRCh38): ENSG00000168843
EnsemblGeneIds (GRCh37): ENSG00000168843
FSTL5 is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

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.
Sources: Literature
Created: 11 Feb 2021, 7:16 p.m.

Mode of inheritance

isolated club-foot; iTEV; Talipes equinovarus



Mode of Inheritance
  • Literature
  • isolated club-foot
  • iTEV
  • Talipes equinovarus
Clinvar variants
Variants in FSTL5
Panels with this gene

History Filter Activity

11 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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