Hereditary neuropathy or pain disorder

Gene: C1orf94

Green List (high evidence)

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

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