Neuromuscular 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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital May 2019 on behalf of London South GLH for the GMS Neurology specialist test group
Created: 16 May 2019, 9:33 p.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myopathy

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

16 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MYL1.

16 May 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MYL1. Rating Changed from Red List (low evidence) to Green List (high evidence)

16 May 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: MYL1 was added gene: MYL1 was added to Neuromuscular arthrogryposis. Sources: London South GLH Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYL1 were set to congenital myopathy