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Mendeliome

Gene: MYMX

Green List (high evidence)

MYMX (myomixer, myoblast fusion factor)
EnsemblGeneIds (GRCh38): ENSG00000262179
EnsemblGeneIds (GRCh37): ENSG00000262179
MYMX is in 2 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

2 additional patients from 2 unrelated families with complex neuromuscular syndrome characterized by generalized hypotonia, congenital myopathy, facial nerve palsy, growth restriction and facial dysmorphism. Additional variable features include hearing loss (confirmed in one patient, suspected in the other), scoliosis, joint contractures, cleft palate, hypoglossia, and cerebellar atrophy and Chiari 1 deformity. WES identified a homozygous truncating variant [c.107T>A, (p.Leu36Ter)] and a homozygous stop-codon loss variant [c.255A>G, (p.Ter85TrpextTer41)] in MYMX. No functional data.
Created: 14 Jan 2025, 11 p.m. | Last Modified: 14 Jan 2025, 11 p.m.
Panel Version: 1.2245

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myopathy MONDO:0019952; congenital myopathy with facial palsy, growth restriction, and dysmorphism

Publications

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Single family, two siblings with weakness of the facial musculature, hypomimic face, increased overbite, micrognathia, and facial dysmorphism with homozygous p.Arg46*. The phenotype resembles CFZ syndrome. The variant prevents fusion of myoblasts from patient-derived iPSCs. Mouse model recapitulates a lethal CFZS-like phenotype.
Sources: Literature
Created: 5 Jun 2023, 4:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carey-Fineman-Ziter syndrome MONDO:0009700

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Carey-Fineman-Ziter syndrome MONDO:0009700
Clinvar variants
Variants in MYMX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: mymx has been classified as Green List (High Evidence).

5 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

5 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

5 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MYMX was added gene: MYMX was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MYMX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYMX were set to 35642635 Phenotypes for gene: MYMX were set to Carey-Fineman-Ziter syndrome MONDO:0009700 Review for gene: MYMX was set to AMBER