CAKUT
Gene: MYOCDComment on list classification: 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, 5:13 p.m. | Last Modified: 19 May 2020, 5:13 p.m.
Panel Version: 1.120
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.
Sources: LiteratureCreated: 16 Jan 2020, 4:19 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Megabladder; congenital heart disease; cardiomyopathy
Publications
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 Green List (High Evidence).
Phenotypes for gene: MYOCD were changed from Megabladder; congenital heart disease; cardiomyopathy to Megabladder, congenital 618719
Publications for gene: MYOCD were set to PMID: 31513549
gene: MYOCD was added gene: MYOCD was added to CAKUT. Sources: Literature Mode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYOCD were set to PMID: 31513549 Phenotypes for gene: MYOCD were set to Megabladder; congenital heart disease; cardiomyopathy Review for gene: MYOCD was set to GREEN