Congenital myopathy
Gene: MYPN
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 617336
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital cap myopathy
Publications
Phenotypes for gene: MYPN were changed from Congenital cap myopathy; Nemaline myopathy, 617336 to Nemaline myopathy 11, autosomal recessive, OMIM:617336
Tag watchlist was removed from gene: MYPN.
Gene: mypn has been classified as Green List (High Evidence).
Phenotypes for gene: MYPN were changed from Congenital cap myopathy to Congenital cap myopathy; Nemaline myopathy, 617336
Publications for gene: MYPN were set to 28220527
Source NHS GMS was added to MYPN.
Source London South GLH was added to MYPN.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
MYPN was created by anna.sarkozy
MYPN was added to Congenital myopathypanel. Sources: UCL