Muscular dystrophy and myopathy_Paediatric

Gene: MYPN

Green List (high evidence)

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

PMID: 28017374
Slowly progressive myopathy with onset in childhood
Identified in at least 4 individuals
Sources: Other
Created: 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)

Green List (high evidence)

Four families and a mouse model. Onset of symptoms in childhood.
Sources: Expert list
Created: 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

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

5 May 2023, Gel status: 0

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