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Mendeliome

Gene: MYL1

Amber List (moderate evidence)

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Classified as LIMITED by ClinGen Congenital Myopathies GCEP on 24/02/2025 - https://search.clinicalgenome.org/CCID:005527

No new evidence - reports the same two probands and functional assay as mentioned below
Created: 7 Mar 2025, 6:07 a.m. | Last Modified: 7 Mar 2025, 6:07 a.m.
Panel Version: 1.2363

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myopathy MONDO:0019952

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two probands with congenital myopathy and a zebrafish model. Probably need one more family to push it over the line.
Sources: NHS GMS
Created: 26 Feb 2020, 3:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414
OMIM
160780
Clinvar variants
Variants in MYL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myl1 has been classified as Amber List (Moderate Evidence).

26 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: myl1 has been classified as Amber List (Moderate Evidence).

26 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: MYL1 was added gene: MYL1 was added to Mendeliome. Sources: NHS GMS Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL1 were set to 30215711 Phenotypes for gene: MYL1 were set to Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414 Review for gene: MYL1 was set to AMBER