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  2. Muscular dystrophy and myopathy_Paediatric
  3. MYBPC1
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Muscular dystrophy and myopathy_Paediatric

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 7 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

age of onset is seen to be typically during infancy

PMID: 31264822
4 individuals from 3 unrelated families with myopathy related phenotypes

PMID: 31025394
2 individuals from unrelated families with myopathy
Sources: Other
Created: 9 May 2023, 12:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital Myopathy 16 (MIM#618524)

Publications

Created: 9 May 2023, 12:34 a.m.

Panel version: 0.128

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 cases/families with myopathy
Sources: NHS GMS
Created: 26 Feb 2020, 2:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, congenital, with tremor MIM#618524

Publications

Created: 26 Feb 2020, 2:03 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.86

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital Myopathy 16 (MIM#618524)
OMIM
160794
Clinvar variants
Variants in MYBPC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mybpc1 has been classified as Green List (High Evidence).

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mybpc1 has been classified as Green List (High Evidence).

9 May 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sangavi Sivagnanasundram (Melbourne Health)

gene: MYBPC1 was added gene: MYBPC1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: MYBPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYBPC1 were set to 31264822; 31025394 Phenotypes for gene: MYBPC1 were set to Congenital Myopathy 16 (MIM#618524) Review for gene: MYBPC1 was set to GREEN