Congenital myopathy

Gene: MYL1

Green List (high evidence)

MYL1 (myosin light chain 1)
EnsemblGeneIds (GRCh38): ENSG00000168530
EnsemblGeneIds (GRCh37): ENSG00000168530
OMIM: 160780, Gene2Phenotype
MYL1 is in 5 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.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myopathy

Publications

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

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.

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

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
  • Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
OMIM
160780
Clinvar variants
Variants in MYL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: myl1 has been classified as Green List (High Evidence).

17 Oct 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: MYL1 were set to 21063730

17 Oct 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MYL1 were changed from congenital myopathy to congenital myopathy; Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414

30 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MYL1.

30 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to MYL1.

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

7 Mar 2017, Gel status: 2

Set publications

Helen Brittain (Genomics England Curator)

Publications for MYL1 were set to 21063730

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Mar 2017, Gel status: 0

Added New Source

Anna Sarkozy (Great Ormond Street Hospital)

MYL1 was added to Congenital myopathypanel. Sources: Expert Review

6 Mar 2017, Gel status: 0

Created

Anna Sarkozy (Great Ormond Street Hospital)

MYL1 was created by anna.sarkozy