Cardiomyopathy_Paediatric
Gene: MYPNEnsemblGeneIds (GRCh38): ENSG00000138347
EnsemblGeneIds (GRCh37): ENSG00000138347
OMIM: 608517, Gene2Phenotype
MYPN is in 7 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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 2023Created: 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)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mypn has been classified as Amber List (Moderate Evidence).
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
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mypn has been classified as Amber List (Moderate Evidence).
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
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mypn has been classified as Red List (Low Evidence).
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,