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Hereditary neuropathy NOT PMP22 copy number

Gene: C1orf94

No list

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)

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

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

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Expert list
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

History Filter Activity

9 Sep 2021, Gel status: 0

Removed Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_21_NHS_review was removed from gene: C1orf94. Tag curated_removed tag was added to gene: C1orf94.

9 Sep 2021, Gel status: 0

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_21_rating was removed from gene: C1orf94.

9 Sep 2021, Gel status: 0

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: c1orf94 has been removed from the panel.

7 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: c1orf94 has been classified as Amber List (Moderate Evidence).

7 Sep 2021, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: C1orf94.

7 Sep 2021, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_21_NHS_review tag was added to gene: C1orf94.

7 Sep 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

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