Arthrogryposis
Gene: MYL1The 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
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
Phenotypes
Myopathy, congenital, with fast-twitch (type II) fiber atrophy, MIM# 618414
Publications
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
Tag Q2_21_rating was removed from gene: MYL1.
Source Expert Review Red was added to MYL1. Rating Changed from Green List (high evidence) to Red List (low evidence)
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