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Cardiomyopathy_Paediatric

Gene: MYPN

Amber List (moderate evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

However, note that the AR skeletal myopathy condition has some reports of HCM in association.
Created: 29 Apr 2024, 1:09 a.m. | Last Modified: 29 Apr 2024, 1:09 a.m.
Panel Version: 0.187
ClinGen assessment

LIMITED for DCM 2020

DISPUTED for HCM 2023
Created: 29 Apr 2024, 1:05 a.m. | Last Modified: 29 Apr 2024, 1:05 a.m.
Panel Version: 0.184

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy 24, MIM# 617336; Cardiomyopathy, dilated, 1KK, MIM# 615248; Cardiomyopathy, hypertrophic, 22, MIM# 615248

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • South West GLH
  • NHS GMS
Phenotypes
  • Congenital myopathy 24, MIM# 617336
  • Cardiomyopathy, dilated, 1KK, MIM# 615248
  • Cardiomyopathy, hypertrophic, 22, MIM# 615248
OMIM
608517
Clinvar variants
Variants in MYPN
Penetrance
None
Panels with this gene

History Filter Activity

29 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mypn has been classified as Amber List (Moderate Evidence).

29 Apr 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYPN were changed from Cardiomyopathy, dilated, 1KK, MIM# 615248; Cardiomyopathy, hypertrophic, 22, MIM# 615248 to Congenital myopathy 24, MIM# 617336; Cardiomyopathy, dilated, 1KK, MIM# 615248; Cardiomyopathy, hypertrophic, 22, MIM# 615248

29 Apr 2024, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYPN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

29 Apr 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mypn has been classified as Amber List (Moderate Evidence).

29 Apr 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYPN were changed from Cardiomyopathy, dilated, 1KK; Cardiomypathy, familial hypertrophic, 22, to Cardiomyopathy, dilated, 1KK, MIM# 615248; Cardiomyopathy, hypertrophic, 22, MIM# 615248

29 Apr 2024, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYPN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Apr 2024, 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).

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYPN was added gene: MYPN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: MYPN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MYPN were set to Cardiomyopathy, dilated, 1KK; Cardiomypathy, familial hypertrophic, 22,