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Severe Paediatric Disorders

Gene: MYBPC1

Green List (high evidence)

MYBPC1 (myosin binding protein C, slow type)
EnsemblGeneIds (GRCh38): ENSG00000196091
EnsemblGeneIds (GRCh37): ENSG00000196091
OMIM: 160794, Gene2Phenotype
MYBPC1 is in 6 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MYBPC1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Arthrogryposis, distal, type 1B, 614335 (3) | Lethal congenital contracture syndrome 4, 614915 (3) | Myopathy, congenital, with tremor, 618524 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
160794
Clinvar variants
Variants in MYBPC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MYBPC1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene MYBPC1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to MYBPC1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MYBPC1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MYBPC1 was added gene: MYBPC1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MYBPC1 was set to