Congenital myopathy
Gene: MYL1

MYL1 (myosin light chain 1)
EnsemblGeneIds (GRCh38): ENSG00000168530
EnsemblGeneIds (GRCh37): ENSG00000168530
OMIM: 160780, Gene2Phenotype
MYL1 is in 4 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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.

Created: 30 Apr 2019, 10:09 a.m.

Panel version: 1.182

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myopathy

Publications

21063730

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

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

Panel version: 1.158

Helen Brittain (Genomics England Curator)

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.

Created: 7 Mar 2017, 3:55 p.m.

Panel version: 1.18

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

it is going to be added in the new diagnostic panel
Created: 6 Mar 2017, 12:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myopathy

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

Panel version: 1.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
London South GLH

Phenotypes

Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414

OMIM

160780

Clinvar variants

Variants in MYL1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

29 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

17 Oct 2019, Gel status: 3