Hereditary neuropathy or pain disorder
Gene: C1orf94
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.Created: 9 Sep 2021, 9:13 a.m. | Last Modified: 9 Sep 2021, 9:13 a.m.
Panel Version: 1.59
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 7 Sep 2021, 1:56 p.m. | Last Modified: 7 Sep 2021, 1:56 p.m.
Panel Version: 1.58
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, 1:53 p.m. | Last Modified: 7 Sep 2021, 1:54 p.m.
Panel Version: 1.57
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 Q3_21_NHS_review was removed from gene: C1orf94. Tag curated_removed tag was added to gene: C1orf94.
Tag Q3_21_rating was removed from gene: C1orf94.
Gene: c1orf94 has been removed from the panel.
Gene: c1orf94 has been classified as Amber List (Moderate Evidence).
Tag Q3_21_rating tag was added to gene: C1orf94.
Tag Q3_21_NHS_review tag was added to gene: C1orf94.
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