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.

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

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.

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

Details

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

History Filter Activity

17 Oct 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MYBPC3 were changed from myopathy and cardiomyopathy to myopathy and cardiomyopathy; Cardiomyopathy, hypertrophic, 4, 115197

30 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MYBPC3.

30 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to MYBPC3.

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

7 Mar 2017, Gel status: 2

Set publications

Helen Brittain (Genomics England Curator)

Publications for MYBPC3 were set to 19858127

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Mar 2017, Gel status: 0

Created

Anna Sarkozy (Great Ormond Street Hospital)

MYBPC3 was created by anna.sarkozy

6 Mar 2017, Gel status: 0

Added New Source

Anna Sarkozy (Great Ormond Street Hospital)

MYBPC3 was added to Congenital myopathypanel. Sources: Expert Review