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  2. Congenital muscular dystrophy and congenital myopathy
  3. MYPN
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Congenital muscular dystrophy and congenital myopathy

Gene: MYPN

Green List (high evidence)
MYPN (myopalladin)
EnsemblGeneIds (GRCh38): ENSG00000138347
EnsemblGeneIds (GRCh37): ENSG00000138347
OMIM: 608517, Gene2Phenotype
MYPN is in 10 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

As a result of watchlist tag audit the watchlist tag was removed from MYPN- this is now a green gene.
Created: 13 Jan 2020, 12:19 p.m. | Last Modified: 13 Jan 2020, 12:19 p.m.
Panel Version: 2.0
Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
Created: 17 Oct 2019, 9:57 a.m. | Last Modified: 17 Oct 2019, 9:57 a.m.
Panel Version: 1.174
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.
Created: 30 Apr 2019, 10:09 a.m.

Copied from panel: Congenital myopathy v3.78

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 617336

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Apr 2019, 10:05 a.m.

Copied from panel: Congenital myopathy v3.78

Helen Brittain (Genomics England Curator)

Comment when marking as ready: 2 families to date. Reviewer emailed to ask if they have further cases. Amber and watchlist on current evidence.
Created: 7 Mar 2017, 4:15 p.m.
Created: 7 Mar 2017, 4:15 p.m.

Copied from panel: Congenital myopathy v3.78

Anna Sarkozy (Great Ormond Street Hospital)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital cap myopathy

Publications

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.78

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • UCL
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nemaline myopathy 11, autosomal recessive, OMIM:617336
OMIM
608517
Clinvar variants
Variants in MYPN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: MYPN was added gene: MYPN was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review Green,UCL,London South GLH Mode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYPN were set to 28220527; 28017374 Phenotypes for gene: MYPN were set to Nemaline myopathy 11, autosomal recessive, OMIM:617336 Penetrance for gene: MYPN were set to Complete