Muscular dystrophy and myopathy_Paediatric
Gene: MYL1EnsemblGeneIds (GRCh38): ENSG00000168530
EnsemblGeneIds (GRCh37): ENSG00000168530
OMIM: 160780, Gene2Phenotype
MYL1 is in 4 panels
2 reviews
Sangavi Sivagnanasundram (Melbourne Health)
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: OtherCreated: 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)
Two probands with congenital myopathy and a zebrafish model
Sources: NHS GMSCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: myl1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: myl1 has been classified as Amber List (Moderate Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: MYL1 were set to 30275711
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