Hereditary neuropathy
Gene: C1orf94Comment 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.Created: 9 Sep 2021, 9:12 a.m. | Last Modified: 9 Sep 2021, 9:12 a.m.
Panel Version: 1.413
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).Created: 7 Sep 2021, 1:57 p.m. | Last Modified: 7 Sep 2021, 1:57 p.m.
Panel Version: 1.412
Two unrelated families, knock in mouse with relevant phenotype. Functional evidence for one variant only
Sources: Expert listCreated: 8 Mar 2021, 10:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Intermediate CMT
Publications
Mode of pathogenicity
Other
Tag curated_removed tag was added to gene: C1orf94.
Gene: c1orf94 has been removed from the panel.
Gene: c1orf94 has been classified as Green List (High Evidence).
Phenotypes for gene: C1orf94 were changed from Intermediate CMT to Intermediate Charcot-Marie-Tooth disease
Publications for gene: C1orf94 were set to 31199454
Publications for gene: C1orf94 were set to PMID: 31199454
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