Activity
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| Hereditary neuropathy v1.504 | ARHGAP19 | Achchuthan Shanmugasundram Classified gene: ARHGAP19 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.504 | ARHGAP19 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Shahryar Alavi, there are multiple unrelated families reported with biallelic ARHGAP19 variants and with motor-predominant neuropathy. Hence, this gene has been promoted to green rating on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.504 | ARHGAP19 | Achchuthan Shanmugasundram Gene: arhgap19 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.503 | ARHGAP19 | Achchuthan Shanmugasundram Publications for gene: ARHGAP19 were set to https://www.medrxiv.org/content/10.1101/2024.05.10.24306768v1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.502 | ARHGAP19 | Achchuthan Shanmugasundram Phenotypes for gene: ARHGAP19 were changed from neuropathy; Charcot-Marie-Tooth disease to motor peripheral neuropathy, MONDO:0002316 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.501 | ARHGAP19 | Achchuthan Shanmugasundram reviewed gene: ARHGAP19: Rating: GREEN; Mode of pathogenicity: None; Publications: 41086021; Phenotypes: motor peripheral neuropathy, MONDO:0002316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.497 | ARHGAP19 |
Shahryar Alavi gene: ARHGAP19 was added gene: ARHGAP19 was added to Hereditary neuropathy. Sources: Research Mode of inheritance for gene: ARHGAP19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARHGAP19 were set to https://www.medrxiv.org/content/10.1101/2024.05.10.24306768v1 Phenotypes for gene: ARHGAP19 were set to neuropathy; Charcot-Marie-Tooth disease Penetrance for gene: ARHGAP19 were set to Complete Mode of pathogenicity for gene: ARHGAP19 was set to Other Review for gene: ARHGAP19 was set to GREEN Added comment: A comprehensive study on loss of function variants of the ARHGAP19 gene from several unrelated families shows that homozygous mutations cause early-onset motor-predominant neuropathy. Biochemical assays revealed that GAP domain variants cause loss of protein function. Fruit fly and Zebrafish loss of function models also showed movement deficits. RNA-Seq analysis confirmed downregulation of ARHGAP19 as well as cell cycle, motor and muscular cytoskeleton pathways in patients compared to controls. The paper is under review. Sources: Research |
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