Muscular dystrophy and myopathy_Paediatric

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

Phenotypic onset is seen typically at birth or in utero during pregnancy.
Skeletal muscle biopsy typically show a variation in fibre size with specific atrophy of the fast-twitch type II fibres.

PMID: 30275711
2 individuals from unrelated consanguineous families.
Zebrafish model showed a reduced muscle development resulting in the aberrant phenotypes.
Sources: Other
Created: 9 May 2023, 12:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Myopathy 14 (MIM#618414)

Publications

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two probands with congenital myopathy and a zebrafish model
Sources: NHS GMS
Created: 26 Feb 2020, 3:30 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
  • Congenital Myopathy 14 (MIM#618414)
OMIM
160780
Clinvar variants
Variants in MYL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Jun 2023, Gel status: 0

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: MYL1 were set to 30275711

9 May 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: MYL1 was added gene: MYL1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL1 were set to 30275711 Phenotypes for gene: MYL1 were set to Congenital Myopathy 14 (MIM#618414) Review for gene: MYL1 was set to AMBER