| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary neuropathy v1.413 | C1orf94 | Sarah Leigh Tag curated_removed tag was added to gene: C1orf94. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.413 | C1orf94 | Sarah Leigh Classified gene: C1orf94 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.413 | C1orf94 |
Sarah Leigh Added comment: Comment on list classification: Curator deletion of this gene from this panel. This gene has been added to this panel in error. The publications, phenotype and reviews are appropriate for C1orf194 and not for C1orf94. |
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| Hereditary neuropathy v1.413 | C1orf94 | Sarah Leigh Gene: c1orf94 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.412 | C1orf94 | Sarah Leigh Classified gene: C1orf94 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.412 | C1orf94 | Sarah Leigh Added comment: Comment on list classification: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least 2 variants reported, together with a supportive mouse knock-out model (PMID: 31199454; 32592472). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.412 | C1orf94 | Sarah Leigh Gene: c1orf94 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.411 | C1orf94 | Sarah Leigh Phenotypes for gene: C1orf94 were changed from Intermediate CMT to Intermediate Charcot-Marie-Tooth disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.410 | C1orf94 | Sarah Leigh Publications for gene: C1orf94 were set to 31199454 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.409 | C1orf94 | Sarah Leigh Publications for gene: C1orf94 were set to PMID: 31199454 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.383 | C1orf94 |
Alexander Rossor gene: C1orf94 was added gene: C1orf94 was added to Hereditary neuropathy. Sources: Expert list Mode of inheritance for gene: C1orf94 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: C1orf94 were set to PMID: 31199454 Phenotypes for gene: C1orf94 were set to Intermediate CMT Penetrance for gene: C1orf94 were set to Complete Mode of pathogenicity for gene: C1orf94 was set to Other Review for gene: C1orf94 was set to GREEN Added comment: Two unrelated families, knock in mouse with relevant phenotype. Functional evidence for one variant only Sources: Expert list |
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