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| Mendeliome v1.1242 | DGAT2 | Zornitza Stark Phenotypes for gene: DGAT2 were changed from axonal Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1875 | DGAT2 | Zornitza Stark Marked gene: DGAT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1875 | DGAT2 | Zornitza Stark Gene: dgat2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1875 | DGAT2 | Zornitza Stark Classified gene: DGAT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1875 | DGAT2 | Zornitza Stark Gene: dgat2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1874 | DGAT2 |
Zornitza Stark gene: DGAT2 was added gene: DGAT2 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: DGAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DGAT2 were set to 26786738 Phenotypes for gene: DGAT2 were set to axonal Charcot-Marie-Tooth disease Review for gene: DGAT2 was set to AMBER Added comment: Single family (father and son) reported, with supporting in vitro functional assays and a zebrafish model. Sources: Expert Review |
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