1. Genes and Genomic Entities
  2. MYBPC1

MYBPC1

myosin binding protein C, slow type
OMIM: 160794, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green MYBPC1 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis, distal, type 1B, 614335
  • Lethal congenital contracture syndrome 4, 614915
  • Distal Arthrogryposis
Green MYBPC1 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London South GLH
    • Expert
    Phenotypes
    • Arthrogryposis, distal, type 1B, OMIM:614335
    • Lethal congenital contracture syndrome 4, OMIM:614915
    • Myopathy, congenital, with tremor, OMIM:618524
    Green MYBPC1 in Fetal anomalies


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

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Lethal congenital contracture syndrome 4 614915
    • Arthrogryposis, distal, type 1B 614335
    Green MYBPC1 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LETHAL CONGENITAL CONTRACTURE SYNDROME 4, OMIM:614915
    • MYBPC1-related arthrogryposis and myopathy
    Red MYBPC1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Arthrogryposis, distal, type 1B 614335 AD
    • Lethal congenital contracture syndrome 4 614915 AR
    Green MYBPC1 in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Arthrogryposis, distal, type 1B, 614335
    • Lethal congenital contracture syndrome 4, 614915
    • Myopathy, congenital, with tremor, 618524