Arthrogryposis
Gene: MYL1
MYL1 (myosin light chain 1)
EnsemblGeneIds (GRCh38): ENSG00000168530
EnsemblGeneIds (GRCh37): ENSG00000168530
OMIM: 160780, Gene2Phenotype
MYL1 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000168530
EnsemblGeneIds (GRCh37): ENSG00000168530
OMIM: 160780, Gene2Phenotype
MYL1 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two families and a zebrafish model. Predominant finding is that of hypotonia, mild contractures reported in one.
Sources: Expert listCreated: 11 Jul 2020, 8:34 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 Red
- Expert list
- 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
11 Jul 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myl1 has been classified as Red List (Low Evidence).
11 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MYL1 was added gene: MYL1 was added to Arthrogryposis. Sources: Expert list 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 RED