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| Autism v0.169 | SHANK1 | Zornitza Stark Phenotypes for gene: SHANK1 were changed from Autism to Neurodevelopmental disorder, MONDO:0700092, SHANK1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.168 | SHANK1 | Zornitza Stark reviewed gene: SHANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SHANK1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.21 | SHANK1 | Zornitza Stark Marked gene: SHANK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.21 | SHANK1 | Zornitza Stark Gene: shank1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.21 | SHANK1 | Zornitza Stark Phenotypes for gene: SHANK1 were changed from to Autism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.20 | SHANK1 | Zornitza Stark Classified gene: SHANK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.20 | SHANK1 | Zornitza Stark Gene: shank1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.18 | SHANK1 |
Sebastian Lunke gene: SHANK1 was added gene: SHANK1 was added to Autism_VCGS. Sources: Literature Mode of inheritance for gene: SHANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SHANK1 were set to 25188300; 22503632 Penetrance for gene: SHANK1 were set to unknown Review for gene: SHANK1 was set to GREEN Added comment: SHANK1 missense and deletion variants have been described in multiple male patients (>10) with autism spectrum disorder. Several of the patients analysed in detail had normal intellect using various different IQ tests, with mild to moderately severe ADI-R scores for social, verbal, non-verbal and repetitive behaviour (Leblond et al 2014). Sources: Literature |
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