| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.3972 | MCM2 | Zornitza Stark Publications for gene: MCM2 were set to 26196677 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3971 | MCM2 |
Zornitza Stark edited their review of gene: MCM2: Added comment: Three additional families reported with missense variants. However, variants not segregated in two of the individuals; the variants reported in 35652205 was inherited from a mildly affected parent. The reported variants are present in gnomAD. Given lack of additional supporting evidence and gnomAD frequencies, retain RED rating.; Changed publications: 26196677, 35652205, 40069133 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4842 | MCM2 | Zornitza Stark Marked gene: MCM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4842 | MCM2 | Zornitza Stark Gene: mcm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4842 | MCM2 |
Zornitza Stark gene: MCM2 was added gene: MCM2 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: MCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MCM2 were set to 26196677 Phenotypes for gene: MCM2 were set to Deafness, autosomal dominant 70, MIM# 616968 Review for gene: MCM2 was set to RED Added comment: One family, expression studies. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||