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Limb disorders

Gene: FMN1

Red List (low evidence)

FMN1 (formin 1)
EnsemblGeneIds (GRCh38): ENSG00000248905
EnsemblGeneIds (GRCh37): ENSG00000248905
OMIM: 136535, Gene2Phenotype
FMN1 is in 3 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

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.

Publications

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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.

Sarah Leigh (Genomics England Curator)

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.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
Unknown

Phenotypes
Cenani Lenz syndactyly 212780

Variants in this GENE are reported as part of current diagnostic practice

Details

Sources
  • Expert Review Red
  • London South East RGC GSTT
  • Viapath
OMIM
136535
Clinvar variants
Variants in FMN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

7 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: fmn1 has been classified as Red List (Low Evidence).

7 Nov 2018, Gel status: 1

Added New Source, Set publications

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to FMN1. Publications for gene FMN1 were changed from to 20610440

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to FMN1. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FMN1 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FMN1 was created by Ellen McDonagh