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Hereditary neuropathy NOT PMP22 copy number

Gene: C1orf194

Amber List (moderate evidence)

C1orf194 (chromosome 1 open reading frame 194)
EnsemblGeneIds (GRCh38): ENSG00000179902
EnsemblGeneIds (GRCh37): ENSG00000179902
C1orf194 is in 2 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

This green review is based on the review of Alexander Rossor (UCL Institute of Neurology), 8 Mar 2021, which was entered in error on the entry for C1orf94. The review is as follows: Two unrelated families, knock in mouse with relevant phenotype. Functional evidence for one variant only. Sources: Expert list.
Created: 9 Sep 2021, 9:34 a.m. | Last Modified: 9 Sep 2021, 9:34 a.m.
Panel Version: 1.60
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 9 Sep 2021, 9:31 a.m. | Last Modified: 9 Sep 2021, 9:31 a.m.
Panel Version: 1.60

Arina Puzriakova (Genomics England Curator)

PMID: 32592472 (2020) - An additional knockout mouse model by same research group, demonstrating defects in motor and sensory functions, myelination abnormalities, peripheral nerve loss and muscle atrophy.
Created: 23 Sep 2020, 12:32 p.m. | Last Modified: 23 Sep 2020, 12:33 p.m.
Panel Version: 1.8
Comment on list classification: This is has been added with an Amber rating, in accordance with the expert review by Zornitza Stark.
Created: 23 Sep 2020, 11:58 a.m. | Last Modified: 23 Sep 2020, 11:58 a.m.
Panel Version: 1.7

Phenotypes
Charcot-Marie-Tooth

Publications

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated families with missense variants, one with intermediate CMT, the other with demyelinating CMT. Different phenotypic manifestations may relate to different mechanism, but this remains to be fully elucidated. Supportive mouse model.
Sources: Literature
Created: 1 May 2020, 9:53 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, intermediate or demyelinating

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Charcot-Marie-Tooth disease, intermediate or demyelinating
Tags
Q3_21_NHS_review
Clinvar variants
Variants in C1orf194
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2021, Gel status: 2

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_21_rating was removed from C1orf194.

9 Sep 2021, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: C1orf194. Tag Q3_21_NHS_review tag was added to gene: C1orf194.

9 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: c1orf194 has been classified as Amber List (Moderate Evidence).

23 Sep 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: C1orf194 were set to 31199454

23 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: c1orf194 has been classified as Amber List (Moderate Evidence).

1 May 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: C1orf194 was added gene: C1orf194 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: C1orf194 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: C1orf194 were set to 31199454 Phenotypes for gene: C1orf194 were set to Charcot-Marie-Tooth disease, intermediate or demyelinating Review for gene: C1orf194 was set to AMBER