Limb disordersGene: FMN1
Dimitrov et al (2010)(PMID: 20610440) report two cases of patients with genomic rearrangements of the GREM1-FMN1 locus and limb defects. 1 has a deletion of of the FMN1 gene, the other has a duplication of the region containing the GREM1 and FMN1 genes.
Created: 7 Nov 2018, 1:26 p.m.
From original expert review I think we should add the gene LRP4, as it is variants in LRP4 that cause Cenani Lenz syndactyly, 212780. LRP4 will be added and reviewed in view of this panel
Created: 5 Apr 2018, 1:38 p.m.
Comment when marking as ready: No evidence for involvement in human disease, animal models suggestive of involvement with skeletal dysplasia
Created: 12 Jul 2016, 7:32 a.m.
Comment on list classification: No evidence of association with human disease
Created: 12 Jul 2016, 7:31 a.m.
Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
Cenani Lenz syndactyly 212780
Variants in this GENE are reported as part of current diagnostic practice
Ana Beleza: Tier 2
Gene: fmn1 has been classified as Red List (Low Evidence).
Source Expert Review Red was added to FMN1. Publications for gene FMN1 were changed from to 20610440
London South East RGC GSTT was added to FMN1. Panel: Limb disorders
FMN1 was added to Limb disorders panel. Sources: Viapath
FMN1 was created by Ellen McDonagh