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Arthrogryposis

Gene: MYL1

Green List (high evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Added to Arthrogryposis panel based on Green rating on 'Neuromuscular arthrogryposis' v0.21 panel.
Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:16 p.m.
Panel Version: 2.64

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • congenital myopathy
OMIM
160780
Clinvar variants
Variants in MYL1
Penetrance
None
Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: MYL1 was added gene: MYL1 was added to Arthrogryposis. Sources: Other,Expert Review Green Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYL1 were set to congenital myopathy