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| Prepair 1000+ v1.1566 | SLC6A5 |
Andrew Coventry changed review comment from: Affected individuals cab present with neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. In some cases, symptoms resolved in the first year of life (PMID: 16751771). Well established gene-disease association, especially for bi-allelic variants, including animal model. AD association also reported, however, limited evidence in literature for mono-allelic cause of disease.; to: Affected individuals can present with neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. In some cases, symptoms resolved in the first year of life (PMID: 16751771). Well established gene-disease association, especially for bi-allelic variants, including animal model. AD association also reported, however, limited evidence in literature for mono-allelic cause of disease. |
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| Prepair 1000+ v1.1566 | SLC6A5 | Andrew Coventry reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31604777, 30847549, 29859229, 16751771; Phenotypes: Hyperekplexia 3 MIM#614618; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | SLC6A5 | Seb Lunke Added phenotypes Hyperekplexia 3, 614618 (3) for gene: SLC6A5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | SLC6A5 |
Zornitza Stark gene: SLC6A5 was added gene: SLC6A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, 614618 (3) |
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