Skeletal dysplasia
Gene: FMN1

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

2 reviews

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.

Created: 12 Jul 2016, 7:31 a.m.

Panel version: 0.480

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

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

Panel version: 0.4

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red
Emory Genetics Laboratory
Expert list
UKGTN

Phenotypes

Animal models with skeletal dysplastic phenotypes

OMIM

136535

Clinvar variants

Variants in FMN1

Penetrance

Complete

Panels with this gene