Arthrogryposis
Gene: MYL1EnsemblGeneIds (GRCh38): ENSG00000168530
EnsemblGeneIds (GRCh37): ENSG00000168530
OMIM: 160780, Gene2Phenotype
MYL1 is in 4 panels
4 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 11 Mar 2022, 1:41 p.m. | Last Modified: 11 Mar 2022, 1:41 p.m.
Panel Version: 3.154
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)
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)
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 Red
- Other
- Phenotypes
-
- Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414
- Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
- OMIM
- 160780
- Clinvar variants
- Variants in MYL1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating was removed from gene: MYL1.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to MYL1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: MYL1 were set to
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: myl1 has been classified as Green List (High Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_rating tag was added to gene: MYL1.
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
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