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| Regression v0.331 | SHANK3 | Zornitza Stark Tag SV/CNV tag was added to gene: SHANK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.331 | SHANK3 | Zornitza Stark Phenotypes for gene: SHANK3 were changed from # 606232. PHELAN-MCDERMID SYNDROME - PHMDS to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.181 | SHANK3 | Zornitza Stark Marked gene: SHANK3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.181 | SHANK3 | Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.181 | SHANK3 | Zornitza Stark Classified gene: SHANK3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.181 | SHANK3 | Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.180 | SHANK3 |
Konstantinos Varvagiannis gene: SHANK3 was added gene: SHANK3 was added to Regression. Sources: Literature Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHANK3 were set to 32050889, 29719671 Phenotypes for gene: SHANK3 were set to # 606232. PHELAN-MCDERMID SYNDROME - PHMDS Penetrance for gene: SHANK3 were set to Complete Review for gene: SHANK3 was set to GREEN Added comment: Regression has been reported in several individuals with Phelan-McDermid syndrome due to SHANK3 variants or deletions encompassing this gene. Sources: Literature |
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