1. Panels
  2. Additional findings_Adult
  3. MYBPC3
STRs in panel
Prev Next
Regions in panel
Prev Next

Additional findings_Adult

Gene: MYBPC3

Green List (high evidence)
MYBPC3 (myosin binding protein C, cardiac)
EnsemblGeneIds (GRCh38): ENSG00000134571
EnsemblGeneIds (GRCh37): ENSG00000134571
OMIM: 600958, Gene2Phenotype
MYBPC3 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 1MM, MIM# 615396; Cardiomyopathy, hypertrophic, 4, MIM# 115197; Left ventricular noncompaction 10, MIM# 615396

Created: 30 Jul 2020, 8:51 a.m.
Last Modified: 30 Jul 2020, 8:51 a.m.
Panel version: 0.53

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Cardiomyopathy, dilated, 1MM, MIM# 615396
  • Cardiomyopathy, hypertrophic, 4, MIM# 115197
  • Left ventricular noncompaction 10, MIM# 615396
OMIM
600958
Clinvar variants
Variants in MYBPC3
Penetrance
None
Panels with this gene

History Filter Activity

30 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mybpc3 has been classified as Green List (High Evidence).

30 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYBPC3 were changed from to Cardiomyopathy, dilated, 1MM, MIM# 615396; Cardiomyopathy, hypertrophic, 4, MIM# 115197; Left ventricular noncompaction 10, MIM# 615396

30 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYBPC3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYBPC3 was added gene: MYBPC3 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: MYBPC3 was set to Unknown