Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: MYOCDEnsemblGeneIds (GRCh38): ENSG00000141052
EnsemblGeneIds (GRCh37): ENSG00000141052
OMIM: 606127, Gene2Phenotype
MYOCD is in 4 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
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.Created: 16 Jan 2020, 4:19 a.m. | Last Modified: 16 Jan 2020, 4:19 a.m.
Panel Version: 0.46
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Megabladder; congenital heart disease; cardiomyopathy
Publications
- PMID: 31513549
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four unrelated families. Mono allelic disease in males (megabladder), bi-allelic disease in males and females (megabladder and congenital heart disease).
Sources: LiteratureCreated: 14 Dec 2019, 6:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Megabladder; congenital heart disease; cardiomyopathy
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Megabladder
- congenital heart disease
- cardiomyopathy
- OMIM
- 606127
- Clinvar variants
- Variants in MYOCD
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myocd has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myocd has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MYOCD was added gene: MYOCD was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. 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 31513549 Phenotypes for gene: MYOCD were set to Megabladder; congenital heart disease; cardiomyopathy Review for gene: MYOCD was set to GREEN