Hereditary neuropathy
Gene: C1orf94

C1orf94 (chromosome 1 open reading frame 94)
EnsemblGeneIds (GRCh38): ENSG00000142698
EnsemblGeneIds (GRCh37): ENSG00000142698
C1orf94 is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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, 9:12 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

Created: 7 Sep 2021, 1:57 p.m.
Last Modified: 7 Sep 2021, 1:57 p.m.
Panel version: 1.412

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Two unrelated families, knock in mouse with relevant phenotype. Functional evidence for one variant only
Sources: Expert list
Created: 8 Mar 2021, 10:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Intermediate CMT

Publications

PMID: 31199454

Mode of pathogenicity
Other

Created: 8 Mar 2021, 10:41 a.m.

Panel version: 1.383

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Removed

Phenotypes

Intermediate Charcot-Marie-Tooth disease

Tags

curated_removed

Clinvar variants

Variants in C1orf94

Penetrance

Complete

Publications

Mode of Pathogenicity

Other

Panels with this gene