| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Autism v0.36 | ZSWIM6 | Zornitza Stark Mode of pathogenicity for gene: ZSWIM6 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.17 | ZSWIM6 | Zornitza Stark Marked gene: ZSWIM6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.17 | ZSWIM6 | Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.17 | ZSWIM6 | Zornitza Stark Publications for gene: ZSWIM6 were set to (PMID: 29198722) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.16 | ZSWIM6 | Zornitza Stark Classified gene: ZSWIM6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.16 | ZSWIM6 | Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.15 | ZSWIM6 |
Elizabeth Palmer gene: ZSWIM6 was added gene: ZSWIM6 was added to Autism_VCGS. Sources: Literature Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZSWIM6 were set to (PMID: 29198722) Phenotypes for gene: ZSWIM6 were set to NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA Penetrance for gene: ZSWIM6 were set to Complete Mode of pathogenicity for gene: ZSWIM6 was set to Other Review for gene: ZSWIM6 was set to GREEN Added comment: In our 2017 paper autistic features were prominent in the 7 published patients with a recurrent de novo variant in ZSWIM6 R913X. The mutant transcript escapes nonsense mediated decay and therefore likely produces a truncated protein. Palmer, E. E., Kumar, R., Gordon, C. T., Shaw, M., Hubert, L., Carroll, R., Rio, M., Murray, L., Leffler, M., Dudding-Byth, T., Oufadem, M., Lalani, S. R., and 31 others. A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations. Am. J. Hum. Genet. 101: 995-1005, 2017. [PubMed: 29198722] Sources: Literature |
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