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| Hereditary neuropathy v1.396 | VWA1 | Sarah Leigh Publications for gene: VWA1 were set to 33559681; 33459760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.395 | VWA1 | Sarah Leigh Classified gene: VWA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.395 | VWA1 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least five variants reported in numerous unrelated cases (PMID 33559681; 33459760). Supportive Zebra fish morpholino studies have also been presented (PMID 33559681; 33015062). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.395 | VWA1 | Sarah Leigh Gene: vwa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.394 | VWA1 | Sarah Leigh Publications for gene: VWA1 were set to 33459760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.393 | VWA1 | Sarah Leigh Publications for gene: VWA1 were set to PMID: 33459760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.392 | VWA1 | Sarah Leigh Phenotypes for gene: VWA1 were changed from hereditary motor neuropathy to Neuropathy, hereditary motor, with myopathic features OMIM:619216; neuropathy, hereditary motor, with myopathic features MONDO:0030977 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.383 | VWA1 |
Alexander Rossor gene: VWA1 was added gene: VWA1 was added to Hereditary neuropathy. Sources: Expert list Mode of inheritance for gene: VWA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VWA1 were set to PMID: 33459760 Phenotypes for gene: VWA1 were set to hereditary motor neuropathy Penetrance for gene: VWA1 were set to Complete Mode of pathogenicity for gene: VWA1 was set to Other Review for gene: VWA1 was set to GREEN Added comment: Bialleleic mutations in 6 unrelated families with a common phenotype Sources: Expert list |
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