1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. MYBPC3
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

Gene: MYBPC3

Amber List (moderate evidence)
MYBPC3 (myosin binding protein C, cardiac)
EnsemblGeneIds (GRCh38): ENSG00000134571
EnsemblGeneIds (GRCh37): ENSG00000134571
OMIM: 600958, Gene2Phenotype
MYBPC3 is in 9 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.
Created: 30 Apr 2019, 10:09 a.m.

Copied from panel: Congenital myopathy v3.67

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
myopathy and cardiomyopathy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Apr 2019, 10:05 a.m.

Copied from panel: Congenital myopathy v3.67

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Reviewer contacted to see if they have further cases, amber and watchlist on current evidence (single case with AR mutations and skeletal phenotype although it is a recognized cardiac muscle gene)
Created: 7 Mar 2017, 3:07 p.m.
Comment on publications: single case re skeletal muscle
Created: 7 Mar 2017, 3:05 p.m.
Comment on list classification: 19858127 has one case with skeletal muscle (in addition to cardiac muscle phenotype)
Created: 7 Mar 2017, 3:05 p.m.
Created: 7 Mar 2017, 3:05 p.m.

Copied from panel: Congenital myopathy v3.67

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

it is going to be added in the new diagnostic panel
Created: 6 Mar 2017, 12:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
myopathy and cardiomyopathy

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.67

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • London South GLH
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cardiomyopathy, dilated, 1MM, OMIM:615396
  • Cardiomyopathy, hypertrophic, 4, OMIM:115197
Tags
watchlist
OMIM
600958
Clinvar variants
Variants in MYBPC3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: MYBPC3 was added gene: MYBPC3 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review Amber,London South GLH,Expert Review watchlist tags were added to gene: MYBPC3. Mode of inheritance for gene: MYBPC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYBPC3 were set to 19858127 Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, dilated, 1MM, OMIM:615396; Cardiomyopathy, hypertrophic, 4, OMIM:115197 Penetrance for gene: MYBPC3 were set to Complete