Hereditary neuropathy
Gene: C1orf194EnsemblGeneIds (GRCh38): ENSG00000179902
EnsemblGeneIds (GRCh37): ENSG00000179902
C1orf194 is in 2 panels
4 reviews
Eleanor Williams (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for C1orf194 is CFAP276.Created: 7 May 2022, 5:02 p.m. | Last Modified: 7 May 2022, 5:02 p.m.
Panel Version: 1.453
Removed the NHS review tag as this is a 100K only panel.Created: 7 May 2022, 4:57 p.m. | Last Modified: 7 May 2022, 4:57 p.m.
Panel Version: 1.453
Sarah Leigh (Genomics England Curator)
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)
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: LiteratureCreated: 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 Green
- Literature
- Phenotypes
-
- Charcot-Marie-Tooth disease, intermediate or demyelinating
- Tags
- Clinvar variants
- Variants in C1orf194
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Eleanor Williams (Genomics England Curator)Tag new-gene-name tag was added to gene: C1orf194.
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q3_21_NHS_review was removed from gene: C1orf194.
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: C1orf194.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: c1orf194 has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: C1orf194 was added gene: C1orf194 was added to Hereditary neuropathy. Sources: Expert Review Amber,Literature Q3_21_NHS_review tags were added to gene: C1orf194. Mode of inheritance for gene: C1orf194 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: C1orf194 were set to 31199454; 32592472 Phenotypes for gene: C1orf194 were set to Charcot-Marie-Tooth disease, intermediate or demyelinating