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| Hereditary neuropathy or pain disorder v1.60 | C1orf194 | Sarah Leigh edited their review of gene: C1orf194: Added comment: This green review is based on the review of Alexander Rossor (UCL Institute of Neurology), 8 Mar 2021, which was entered in error on the entry for C1orf94. The review is as follows: Two unrelated families, knock in mouse with relevant phenotype. Functional evidence for one variant only. Sources: Expert list.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.59 | C1orf94 |
Sarah Leigh Tag Q3_21_NHS_review was removed from gene: C1orf94. Tag curated_removed tag was added to gene: C1orf94. |
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| Hereditary neuropathy or pain disorder v1.59 | C1orf94 | Sarah Leigh Tag Q3_21_rating was removed from gene: C1orf94. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.59 | C1orf94 | Sarah Leigh Classified gene: C1orf94 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.59 | 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 or pain disorder v1.59 | C1orf94 | Sarah Leigh Gene: c1orf94 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.58 | C1orf94 | Sarah Leigh Classified gene: C1orf94 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.58 | C1orf94 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.58 | C1orf94 | Sarah Leigh Gene: c1orf94 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.57 | C1orf94 | Sarah Leigh Tag Q3_21_rating tag was added to gene: C1orf94. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.57 | C1orf94 | Sarah Leigh Tag Q3_21_NHS_review tag was added to gene: C1orf94. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.57 | C1orf94 | Sarah Leigh changed review comment from: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least 2 variants reported, together with a supportive mouse knock-out model.; to: 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 or pain disorder v1.57 | C1orf94 | Sarah Leigh reviewed gene: C1orf94: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.57 | C1orf94 | Sarah Leigh Entity copied from Hereditary neuropathy v1.411 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.57 | C1orf94 |
Sarah Leigh gene: C1orf94 was added gene: C1orf94 was added to Hereditary neuropathy NOT PMP22 copy number. 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 31199454; 32592472 Phenotypes for gene: C1orf94 were set to Intermediate Charcot-Marie-Tooth disease Penetrance for gene: C1orf94 were set to Complete Mode of pathogenicity for gene: C1orf94 was set to Other |
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