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  3. FMN1
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Hand and foot malformations

Gene: FMN1

Amber List (moderate evidence)
FMN1 (formin 1)
EnsemblGeneIds (GRCh38): ENSG00000248905
EnsemblGeneIds (GRCh37): ENSG00000248905
OMIM: 136535, Gene2Phenotype
FMN1 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A 263 Kb homozygous deletion of FMN1 has been identified in a single case with oligosyndactyly, radioulnar synostosis, hearing loss and renal defects. Also, a supporting null mouse model with oligosyndactyly. Also, a large duplication including GREM1 reported in association with Cenani–Lenz syndrome.
Created: 22 Sep 2021, 11:37 p.m. | Last Modified: 22 Sep 2021, 11:37 p.m.
Panel Version: 0.23

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
oligosyndactyly; radioulnar synostosis; hearing loss; renal defects

Publications

Created: 22 Sep 2021, 11:37 p.m.
Last Modified: 22 Sep 2021, 11:37 p.m.
Panel version: 0.23

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • oligosyndactyly
  • radioulnar synostosis
  • hearing loss
  • renal defects
Tags
SV/CNV
OMIM
136535
Clinvar variants
Variants in FMN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fmn1 has been classified as Amber List (Moderate Evidence).

22 Sep 2021, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FMN1 were changed from to oligosyndactyly; radioulnar synostosis; hearing loss; renal defects

22 Sep 2021, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FMN1 were set to

22 Sep 2021, Gel status: 2

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: FMN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fmn1 has been classified as Amber List (Moderate Evidence).

22 Sep 2021, Gel status: 1

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag SV/CNV tag was added to gene: FMN1.

22 Sep 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: FMN1 was added gene: FMN1 was added to Hand and foot malformation. Sources: Expert list Mode of inheritance for gene: FMN1 was set to Unknown