PanelApp
  1. Genes and Genomic Entities
  2. MYMK

MYMK

myomaker, myoblast fusion factor
OMIM: 615345, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green MYMK in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Carey-Fineman-Ziter syndrome 254940
    Tags
    • founder

    Red MYMK in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.132

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Carey-Fineman-Ziter syndrome
    • OMIM #254940

    Green MYMK in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Carey-Fineman-Ziter syndrome
    • OMIM #254940
    Tags
    • founder

    Green MYMK in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Carey-Fineman-Ziter syndrome MONDO:0009700

    Red MYMK in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Carey-Fineman-Ziter syndrome
    • OMIM #254940

    Green MYMK in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Carey-Fineman-Ziter syndrome, 254940 (3), Autosomal recessive

    Green MYMK in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.278

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Carey-Fineman-Ziter syndrome, MIM# 254940

    Green MYMK in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.10

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Carey-Fineman-Ziter syndrome, MIM 254940
    Tags
    • founder

    Green MYMK in Fetal anomalies


    Version 1.465

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Carey-Fineman-Ziter syndrome, MONDO:0009700
    • Carey-Fineman-Ziter syndrome, OMIM:254940

    Green MYMK in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Carey-Fineman-Ziter syndrome, MIM#254940