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
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
Myopathy, congenital, with fast-twitch (type II) fiber atrophy, MIM# 618414
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
Publications for gene: MYL1 were set to
Gene: myl1 has been classified as Green List (High Evidence).
Tag Q2_21_rating tag was added to gene: MYL1.
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
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