Hereditary neuropathy or pain disorder
Gene: C1orf194Added new-gene-name tag, new approved HGNC gene symbol for C1orf194 is CFAP276.Created: 7 May 2022, 5:03 p.m. | Last Modified: 7 May 2022, 5:03 p.m.
Panel Version: 1.101
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:08 p.m. | Last Modified: 14 Mar 2022, 1:08 p.m.
Panel Version: 1.88
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
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
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
Tag new-gene-name tag was added to gene: C1orf194.
Tag gene-checked tag was added to gene: C1orf194.
Tag Q3_21_rating was removed from gene: C1orf194. Tag Q3_21_NHS_review was removed from gene: C1orf194.
Source Expert Review Green was added to C1orf194. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_rating tag was added to gene: C1orf194.
Tag Q3_21_rating was removed from C1orf194.
Tag Q3_21_rating tag was added to gene: C1orf194. Tag Q3_21_NHS_review tag was added to gene: C1orf194.
Gene: c1orf194 has been classified as Amber List (Moderate Evidence).
Publications for gene: C1orf194 were set to 31199454
Gene: c1orf194 has been classified as Amber List (Moderate Evidence).
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