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| Mendeliome v0.14233 | MYOCD | Zornitza Stark Mode of inheritance for gene: MYOCD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14232 | MYOCD | Zornitza Stark edited their review of gene: MYOCD: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14232 | MYOCD |
Zornitza Stark changed review comment from: Congenital megabladder (MGBL) is characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, likely the result of differences in urethra and bladder development and length differences in urethra between males and females. Seven affected males from three families. Five females and one male with the variant were unaffected, suggesting incomplete penetrance. Additional family in PMID 35005812 as part of a large prenatal renal cohort.; to: Congenital megabladder (MGBL) is characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, likely the result of differences in urethra and bladder development and length differences in urethra between males and females. Seven affected males from three families. Five females and one male with the variant were unaffected, suggesting incomplete penetrance. Additional family in PMID 35005812 as part of a large prenatal renal cohort. Mono allelic disease in males (megabladder), bi-allelic disease in males and females (megabladder and congenital heart disease). Mouse models. |
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| Mendeliome v0.14232 | MYOCD | Zornitza Stark Marked gene: MYOCD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14232 | MYOCD | Zornitza Stark Gene: myocd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14232 | MYOCD | Zornitza Stark Phenotypes for gene: MYOCD were changed from to Megabladder, congenital, MIM# 618719 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14231 | MYOCD | Zornitza Stark Publications for gene: MYOCD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14230 | MYOCD | Zornitza Stark Mode of inheritance for gene: MYOCD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14229 | MYOCD | Zornitza Stark edited their review of gene: MYOCD: Changed phenotypes: Megabladder, congenital, MIM# 618719 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14229 | MYOCD | Zornitza Stark reviewed gene: MYOCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 31513549, 35005812; Phenotypes: Megabladder, congenital, MIM3 618719; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | MYOCD |
Zornitza Stark gene: MYOCD was added gene: MYOCD was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYOCD was set to Unknown |
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