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| Deafness_IsolatedAndComplex v1.315 | MCM2 | Zornitza Stark Publications for gene: MCM2 were set to 26196677 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.314 | 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; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Deafness_IsolatedAndComplex v1.9 | MCM2 | Zornitza Stark Phenotypes for gene: MCM2 were changed from Autosomal dominant hearing loss to Deafness, autosomal dominant 70, MIM# 616968 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.8 | MCM2 | Zornitza Stark reviewed gene: MCM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 70, MIM# 616968; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.88 | MCM2 | Zornitza Stark Marked gene: MCM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.88 | MCM2 | Zornitza Stark Gene: mcm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.88 | MCM2 | Zornitza Stark Classified gene: MCM2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.88 | MCM2 | Zornitza Stark Gene: mcm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.78 | MCM2 |
Lilian Downie gene: MCM2 was added gene: MCM2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list 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 Autosomal dominant hearing loss Review for gene: MCM2 was set to RED Added comment: One family, expression studies. Sources: Expert list |
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