1. Panels
  2. Hypertrophic cardiomyopathy_HCM
  3. MYPN
STRs in panel
Prev Next
Regions in panel
Prev Next

Hypertrophic cardiomyopathy_HCM

Gene: MYPN

Red List (low evidence)
MYPN (myopalladin)
EnsemblGeneIds (GRCh38): ENSG00000138347
EnsemblGeneIds (GRCh37): ENSG00000138347
OMIM: 608517, Gene2Phenotype
MYPN is in 7 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 30681346;
LIMITED by ClinGen working group.

Extract from ClinGen's curation:
Variants in this gene have been reported in at least 8 probands in 2 publications (PMIDs: 20801532, 22286171). This gene disease association is supported by expression studies, functional assays, and animal models. In summary, there is limited evidence to support this gene-disease relationship
Sources: Literature
Created: 29 Jul 2020, 12:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cardiomyopathy, hypertrophic, 22 (MIM# 615248)

Publications

Created: 29 Jul 2020, 12:56 a.m.

Panel version: 0.89

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cardiomyopathy, hypertrophic, 22 (MIM# 615248)
OMIM
608517
Clinvar variants
Variants in MYPN
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

29 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mypn has been classified as Red List (Low Evidence).

29 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mypn has been classified as Red List (Low Evidence).

29 Jul 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: MYPN was added gene: MYPN was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: MYPN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYPN were set to 30681346; 20801532; 22286171 Phenotypes for gene: MYPN were set to Cardiomyopathy, hypertrophic, 22 (MIM# 615248) Penetrance for gene: MYPN were set to unknown Review for gene: MYPN was set to RED