Muscular dystrophy and myopathy_Paediatric
Gene: MYPNEnsemblGeneIds (GRCh38): ENSG00000138347
EnsemblGeneIds (GRCh37): ENSG00000138347
OMIM: 608517, Gene2Phenotype
MYPN is in 7 panels
2 reviews
Sangavi Sivagnanasundram (Melbourne Health)
PMID: 28017374
Slowly progressive myopathy with onset in childhood
Identified in at least 4 individuals
Sources: OtherCreated: 5 May 2023, 1:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline Myopathy (MIM#617336; MONDO:0018958)
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four families and a mouse model. Onset of symptoms in childhood.
Sources: Expert listCreated: 3 Jun 2020, 9:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy, MIM#617336
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Expert list
- Phenotypes
-
- Nemaline Myopathy (MIM#617336
- MONDO:0018958)
- OMIM
- 608517
- Clinvar variants
- Variants in MYPN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mypn has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mypn has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: MYPN was added gene: MYPN was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYPN were set to 28017374 Phenotypes for gene: MYPN were set to Nemaline Myopathy (MIM#617336; MONDO:0018958) Review for gene: MYPN was set to GREEN