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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 5 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Only mild contractures described in 1/2 individuals with variants in this gene. Therefore, there is only enough evidence for a RED rating on this panel at present. These cases would still expected to be picked up via the 'Congenital myopathy' or 'Fetal anomalies' routes for which this gene is Green.
Created: 8 Feb 2021, 12:04 p.m. | Last Modified: 8 Feb 2021, 12:04 p.m.
Panel Version: 3.65
- PMID: 30215711 (2018) - Predominant phenotype is severe hypotonia and respiratory failure from birth. 2 patients are reported: one had polyhydramnios and normal fetal movements, with mild flexion contractures at birth. The other had normal liquor volume, reduced fetal movements, and no contractures.
Created: 8 Feb 2021, 11:55 a.m. | Last Modified: 8 Feb 2021, 11:55 a.m.
Panel Version: 3.64

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Two families and a zebrafish model. Predominant finding is that of hypotonia, mild contractures reported in one.
Created: 11 Jul 2020, 8:33 a.m. | Last Modified: 11 Jul 2020, 8:33 a.m.
Panel Version: 3.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, congenital, with fast-twitch (type II) fiber atrophy, MIM# 618414

Publications

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
  • Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414
  • Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
Tags
Q2_21_rating
OMIM
160780
Clinvar variants
Variants in MYL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MYL1 were set to

8 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: myl1 has been classified as Green List (High Evidence).

8 Feb 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: MYL1.

29 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MYL1 were changed from congenital myopathy to Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414; Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109

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