MYMK

myomaker, myoblast fusion factor
OMIM: 615345, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green MYMK in Hydrocephalus


Version 2.131
Latest signed off version: v2.3 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Carey-Fineman-Ziter syndrome, OMIM:254940
  • Carey-Fineman-Ziter syndrome, MONDO:0009700
Tags
  • Q4_21_expert_review
  • Q4_21_phenotype
  • to_be_confirmed_NHSE

Green MYMK in Neuromuscular disorders


Version 5.352
Latest signed off version: v5.43 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Carey-Fineman-Ziter syndrome

Green MYMK in Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.31
Latest signed off version: v2.2 (2 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Carey-Fineman-Ziter syndrome, OMIM:254940
    • Carey-Fineman-Ziter syndrome, MONDO:0009700
    Tags
    • Q3_21_expert_review
    • Q3_21_phenotype

    Green MYMK in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.161
    Latest signed off version: v3.2 (13 Feb 2020)

    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 2.89
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Carey-Fineman-Ziter syndrome, OMIM:254940
    • Carey-Fineman-Ziter syndrome, MONDO:0009700

    Green MYMK in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    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 2.70
    Latest signed off version: v2.2 (4 Mar 2020)

    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 1.127

    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