Affected individuals present with hypotonia and respiratory insufficiency. More severe cases develop features in utero and lead to contractures.
Created: 27 Jul 2021, 9:14 a.m. | Last Modified: 27 Jul 2021, 9:14 a.m.
Panel Version: 2.56
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics) on Congenital myopathy panel. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association on this panel (Arthrogryposis). Therefore, this gene has been given an Amber rating.
Created: 8 Jul 2021, 9:20 a.m. | Last Modified: 27 Jul 2021, 9:17 a.m.
Panel Version: 3.113
Three unrelated families reported.
Created: 7 Sep 2020, 8:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, MIM# 618975
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_21_rating was removed from gene: MYOD1. Tag watchlist tag was added to gene: MYOD1.
gene: MYOD1 was added gene: MYOD1 was added to Arthrogryposis. Sources: Expert Review Amber,Literature Q3_21_rating tags were added to gene: MYOD1. Mode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYOD1 were set to 26733463; 30403323; 31260566 Phenotypes for gene: MYOD1 were set to Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975