Deafness_IsolatedAndComplex
Gene: FMN1
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: LiteratureCreated: 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
Gene: fmn1 has been classified as Amber List (Moderate Evidence).
Gene: fmn1 has been classified as Amber List (Moderate Evidence).
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