1. Genes and Genomic Entities
  2. MYMK

MYMK

myomaker, myoblast fusion factor
OMIM: 615345, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Amber MYMK in Hydrocephalus


Version 4.6
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Literature
Phenotypes
  • Carey-Fineman-Ziter syndrome, OMIM:254940
  • Carey-Fineman-Ziter syndrome, MONDO:0009700
Red MYMK in Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.24
Latest signed off version: v4.23 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • Literature
    Phenotypes
    • Carey-Fineman-Ziter syndrome, OMIM:254940
    • Carey-Fineman-Ziter syndrome, MONDO:0009700
    Green MYMK in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.3
    Latest signed off version: v6.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Carey-Fineman-Ziter syndrome, OMIM:254940
    • Carey-Fineman-Ziter syndrome, MONDO:0009700
    Green MYMK in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.38
    Latest signed off version: v4.37 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Carey-Fineman-Ziter syndrome, OMIM:254940
    Green MYMK in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Carey-Fineman-Ziter syndrome, OMIM:254940
    • Carey-Fineman-Ziter syndrome, MONDO:0009700
    Green MYMK in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Carey-Fineman-Ziter syndrome, OMIM:254940
    • Carey-Fineman-Ziter syndrome, MONDO:0009700
    Green MYMK in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Carey-Fineman-Ziter syndrome, OMIM:254940
    • Carey-Fineman-Ziter syndrome, MONDO:0009700