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Deafness_IsolatedAndComplex

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

PMID: 36928819 - Posterior probability association (PPA) between 0.95-0.96 for congenital hearing impairment under a recessive MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 510 CHI cases assessed and 54,738 controls in BeviMed analysis. A splice variant (n=3) & frameshift variant (n=1), possibly in 2 cases and possibly in trans (cosegregation in 2 unaffected relatives mentioned)

PMID: 20610440; 19383632; 15202026 - 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.
Sources: Literature
Created: 3 Dec 2024, 5:44 a.m. | Last Modified: 4 Dec 2024, 12:25 a.m.
Panel Version: 1.208

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hearing loss disorder MONDO:0005365

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hearing loss disorder MONDO:0005365
Tags
SV/CNV
OMIM
136535
Clinvar variants
Variants in FMN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

3 Dec 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

3 Dec 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FMN1 was added gene: FMN1 was added to Deafness_IsolatedAndComplex. Sources: Literature SV/CNV tags were added to gene: FMN1. Mode of inheritance for gene: FMN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FMN1 were set to 20610440; 19383632; 15202026; 36928819 Phenotypes for gene: FMN1 were set to Hearing loss disorder MONDO:0005365 Review for gene: FMN1 was set to AMBER