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| Genetic Epilepsy v0.1005 | SCAMP5 | Zornitza Stark Mode of pathogenicity for gene: SCAMP5 was changed from None to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1004 | SCAMP5 | Zornitza Stark edited their review of gene: SCAMP5: Changed mode of pathogenicity: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1004 | SCAMP5 | Zornitza Stark Publications for gene: SCAMP5 were set to 31439720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1003 | SCAMP5 |
Zornitza Stark edited their review of gene: SCAMP5: Added comment: Four unrelated individuals reported with same de novo missense variant, p. Gly180Trp. The onset age of seizures was ranged from 6 to 15 months. Patients had different types of seizures, including focal seizures, generalized tonic-clonic seizures and tonic seizure. One patient showed typical autism spectrum disorder (ASD) symptoms. Electroencephalogram (EEG) findings presented as focal or multifocal discharges, sometimes spreading to generalization. Brain magnetic resonance imaging (MRI) abnormalities were present in each patient. Severe intellectual disability and language and motor developmental disorders were found in our patients, with all patients having poor language development and were nonverbal at last follow-up. All but one of the patients could walk independently in childhood, but the ability to walk independently in one patient had deteriorated with age. All patients had abnormal neurological exam findings, mostly signs of extrapyramidal system involvement. Dysmorphic features were found in 2/4 patients, mainly in the face and trunk.; Changed rating: GREEN; Changed publications: 31439720, 33390987 |
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| Genetic Epilepsy v0.1001 | SCAMP5 | Emma Goss Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1001 | SCAMP5 |
Emma Goss changed review comment from: An additional four unrelated patients with the previously reported missense variant de novo SCAMP5 variant (p. Gly180Trp) from three countries, including detailed descriptions of initial clinical presentations and long-term follow-up (ranged from 1 to 33 years). : Epilepsy, severe developmental delay, abnormal neurological exam findings, with or without ASD or variably dysmorphic features and were common in patients with SCAMP5 variant. The onset time and type of seizure varied greatly. The EEG and brain MRI findings were not consistent, but diverse and nonspecific. The motor ability of patients with Edited by: Tieliu Shi, East China Normal University, China Reviewed by: Juliet Taylor, The University of Melbourne, Australia Chin Moi Chow, The University of Sydney, Australia *Correspondence: Xiaodong Wang xdwang@ciphergene.com Zhixian Yang zhixian.yang@163.com Specialty section: This article was submitted to Translational Pharmacology, a section of the journal Frontiers in Pharmacology Received: 26 August 2020 Accepted: 11 November 2020 Published: 18 December 2020 Citation: Jiao X, Morleo M, Nigro V, Torella A, D’Arrigo S, Ciaccio C, Pantaleoni C, Gong P, Grand K, Sanchez-Lara PA, Krier J, Fieg E, Stergachis A, Wang X and Yang Z (2020) Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay. Front. Pharmacol. 11:599191. doi: 10.3389/fphar.2020.599191 Frontiers in Pharmacology | www.frontiersin.org 1 December 2020 | Volume 11 | Article 599191 ORIGINAL RESEARCH published: 18 December 2020 doi: 10.3389/fphar.2020.599191 heterozygous SCAMP5 variant might have a regressive course; language development was more severely affected.; to: An additional four unrelated patients with the previously reported missense variant de novo SCAMP5 variant (p. Gly180Trp) from three countries, including detailed descriptions of initial clinical presentations and long-term follow-up (ranged from 1 to 33 years). Epilepsy, severe developmental delay, abnormal neurological exam findings, with or without ASD or variably dysmorphic features and were common in patients with SCAMP5 variant. The onset time and type of seizure varied greatly. The EEG and brain MRI findings were not consistent, but diverse and nonspecific. heterozygous SCAMP5 variant might have a regressive course. |
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| Genetic Epilepsy v0.1001 | SCAMP5 | Emma Goss reviewed gene: SCAMP5: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.40 | SCAMP5 | Zornitza Stark Marked gene: SCAMP5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.40 | SCAMP5 | Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.40 | SCAMP5 | Zornitza Stark Classified gene: SCAMP5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.40 | SCAMP5 | Zornitza Stark Gene: scamp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.39 | SCAMP5 |
Zornitza Stark gene: SCAMP5 was added gene: SCAMP5 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature Mode of inheritance for gene: SCAMP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCAMP5 were set to 31439720 Phenotypes for gene: SCAMP5 were set to Intellectual disability; seizures; autism Added comment: 2 unrelated individuals with ASD, ID and seizures, with the same heterozygous de novo variant in SCAMP5 (p.Gly302Trp). Western blot analysis of proteins overexpressed in the Drosophila fat body showed strongly reduced levels of the SCAMP p.Gly302Trp protein compared with the wild-type protein, indicating that the mutant either reduced expression or increased turnover of the protein. The expression of the fly homologue of the human SCAMP5 p.Gly180Trp mutation caused similar eye and neuronal phenotypes as the expression of SCAMP RNAi, suggesting a dominant-negative effect. Sources: Literature |
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