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  3. MYMK
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Muscular dystrophy and myopathy_Paediatric

Gene: MYMK

Green List (high evidence)
MYMK (myomaker, myoblast fusion factor)
EnsemblGeneIds (GRCh38): ENSG00000187616
EnsemblGeneIds (GRCh37): ENSG00000187616
OMIM: 615345, Gene2Phenotype
MYMK is in 10 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Carey-Fineman-Ziter syndrome is considered a congenital myopathy
Sources: Other
Created: 5 Jun 2023, 4:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carey-Fineman-Ziter syndrome MONDO:0009700

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Jun 2023, 4:09 a.m.

Panel version: 0.186

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Carey-Fineman-Ziter syndrome (CFZS) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. Intellect has been normal in molecularly confirmed cases. Defect in myoblast fusion. 6 unrelated families reported with CFZ phenotype and bi-allelic MYMK variants. p.Pro91Thr is a common founder variant, which is hypomorphic.
Sources: Expert Review
Created: 5 Jan 2020, 2:30 a.m. | Last Modified: 2 Nov 2020, 8:20 p.m.
Panel Version: 1.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carey-Fineman-Ziter syndrome; OMIM #254940

Publications

Created: 5 Jan 2020, 2:30 a.m.
Last Modified: 2 Nov 2020, 8:20 p.m.
Panel version: Imported from Myopathy - paediatric onset panel version Imported from Myopathy panel version 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
  • Expert Review
Phenotypes
  • Carey-Fineman-Ziter syndrome MONDO:0009700
OMIM
615345
Clinvar variants
Variants in MYMK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

5 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

5 Jun 2023, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mymk has been classified as Red List (Low 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: MYMK was added gene: MYMK was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYMK were set to 32333597; 30065953 Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome MONDO:0009700 Review for gene: MYMK was set to GREEN gene: MYMK was marked as current diagnostic