MYMK

myomaker, myoblast fusion factor
OMIM: 615345, Gene2Phenotype

6 panels

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


Level 2: Neurology
Version 5.8
Latest signed off version: v5.0 (7 Aug 2024)

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 2: Neurology
Version 6.8
Latest signed off version: v6.0 (30 Apr 2025)

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 2: Neurology
    Version 9.24
    Latest signed off version: v9.0 (30 Apr 2025)

    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 2: Neurology
    Version 6.45
    Latest signed off version: v6.0 (30 Apr 2025)

    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


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    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 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    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