Congenital myopathy

Gene: MYPN

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.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 617336

Publications

• 28017374

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

• 28220527