Congenital myopathy
Gene: MYL1
Comment on list classification: Changed from Amber to Green. New evidence PMID: 30215711 (2018) In 2 unrelated patients, each born of consanguineous Turkish parents, with congenital myopathy with fast-twitch (type II) fiber atrophy. Also a Zebrafish model indicated that myl1 is required for the normal formation and maintenance of myofibers.Created: 17 Oct 2019, 10:20 a.m. | Last Modified: 17 Oct 2019, 10:20 a.m.
Panel Version: 1.177
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
congenital myopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Reviewer contacted to see if they have further cases, amber on current evidence.Created: 7 Mar 2017, 3:55 p.m.
Comment on list classification: Debate regarding modifier role in EDMD (PMID 21063730). Further evidence of causation required prior to inclusion.Created: 7 Mar 2017, 3:55 p.m.
it is going to be added in the new diagnostic panelCreated: 6 Mar 2017, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myopathy
Phenotypes for gene: MYL1 were changed from Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414; Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109 to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414
Phenotypes for gene: MYL1 were changed from congenital myopathy; Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414; Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
Gene: myl1 has been classified as Green List (High Evidence).
Publications for gene: MYL1 were set to 21063730
Phenotypes for gene: MYL1 were changed from congenital myopathy to congenital myopathy; Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414
Source NHS GMS was added to MYL1.
Source London South GLH was added to MYL1.
This gene has been classified as Amber List (Moderate Evidence).
Publications for MYL1 were set to 21063730
This gene has been classified as Amber List (Moderate Evidence).
MYL1 was added to Congenital myopathypanel. Sources: Expert Review
MYL1 was created by anna.sarkozy