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  3. MYMK
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Clefting disorders

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cleft palate is a feature.
Created: 1 Feb 2024, 4:49 a.m. | Last Modified: 1 Feb 2024, 4:49 a.m.
Panel Version: 0.248

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carey-Fineman-Ziter syndrome, MIM# 254940

Created: 1 Feb 2024, 4:49 a.m.
Last Modified: 1 Feb 2024, 4:49 a.m.
Panel version: 0.248

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Carey-Fineman-Ziter syndrome, MIM# 254940
OMIM
615345
Clinvar variants
Variants in MYMK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Feb 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome 254940 to Carey-Fineman-Ziter syndrome, MIM# 254940

16 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYMK was added gene: MYMK was added to Clefting_GEL. Sources: Expert Review Green,Literature Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYMK were set to 28681861 Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome 254940