Paediatric disorders - additional genes
Gene: MYOCD
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 3:53 p.m. | Last Modified: 10 Mar 2022, 3:53 p.m.
Panel Version: 1.96
Comment on list classification: Chirag Patel (Genetic Health Queensland)(16 Jan 2020) review on CAKUT panel: Four unrelated families. Mono allelic disease in males (megabladder), bi-allelic disease in males and females (megabladder and congenital heart disease). Cosegregation of MYOCD variants with the phenotype in 4 unrelated families by in vitro transactivation studies in which pathogenic variants resulted in abrogated SM gene expression and by the finding of megabladder in 2 distinct mouse models with reduced Myocd activity.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in at least 4 unrelated cases, together with a supportive loss of function mouse model. PMID 31513549 concludes "that monoallelic loss-of-function variants in MYOCD cause congenital megabladder in males and that biallelic variants are associated with disease manifest in females that also involves the cardiovascular system".Created: 19 May 2020, 5:22 p.m. | Last Modified: 19 May 2020, 5:22 p.m.
Panel Version: 1.53
Sources: Expert ReviewCreated: 19 May 2020, 5:17 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Megabladder, congenital 618719
Publications
Tag for-review was removed from gene: MYOCD.
Source Expert Review Green was added to MYOCD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: MYOCD were changed from Megabladder, congenital 618719 to Megabladder, congenital, OMIM:618719; Megabladder, congenital, MONDO:0032879
Gene: myocd has been classified as Amber List (Moderate Evidence).
Gene: myocd has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: MYOCD.
gene: MYOCD was added gene: MYOCD was added to Paediatric disorders - additional genes. Sources: Expert Review Mode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYOCD were set to 31513549 Phenotypes for gene: MYOCD were set to Megabladder, congenital 618719 Review for gene: MYOCD was set to AMBER