Activity
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6 actions
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| 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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| Hereditary neuropathy v1.63 | BRAF | Louise Daugherty reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.60 | BRAF | Louise Daugherty Added phenotypes Cardiomyopathy for gene: BRAF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.58 | BRAF | Natalie Forrester reviewed gene: BRAF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.57 | BRAF | Louise Daugherty Source NHS GMS was added to BRAF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.56 | BRAF | Louise Daugherty Source South West GLH was added to BRAF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||