Activity

Filter

Cancel
Date Panel Item Activity
21 actions
Hereditary neuropathy or pain disorder v1.101 C1orf194 Eleanor Williams Tag new-gene-name tag was added to gene: C1orf194.
Hereditary neuropathy or pain disorder v1.101 C1orf194 Eleanor Williams commented on gene: C1orf194
Hereditary neuropathy or pain disorder v1.101 C1orf194 Eleanor Williams Tag gene-checked tag was added to gene: C1orf194.
Hereditary neuropathy or pain disorder v1.88 C1orf194 Ivone Leong Tag Q3_21_rating was removed from gene: C1orf194.
Tag Q3_21_NHS_review was removed from gene: C1orf194.
Hereditary neuropathy or pain disorder v1.88 C1orf194 Sarah Leigh commented on gene: C1orf194: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v1.87 C1orf194 Ivone Leong Source Expert Review Green was added to C1orf194.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v1.75 C1orf194 Arina Puzriakova Tag Q3_21_rating tag was added to gene: C1orf194.
Hereditary neuropathy or pain disorder v1.61 C1orf194 Sarah Leigh Tag Q3_21_rating was removed from C1orf194.
Hereditary neuropathy or pain disorder v1.60 C1orf194 Sarah Leigh edited their review of gene: C1orf194: Added comment: 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.; Changed rating: GREEN
Hereditary neuropathy or pain disorder v1.60 C1orf194 Sarah Leigh Tag Q3_21_rating tag was added to gene: C1orf194.
Tag Q3_21_NHS_review tag was added to gene: C1orf194.
Hereditary neuropathy or pain disorder v1.60 C1orf194 Sarah Leigh Classified gene: C1orf194 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v1.60 C1orf194 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Hereditary neuropathy or pain disorder v1.60 C1orf194 Sarah Leigh Gene: c1orf194 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v1.59 C1orf94 Sarah Leigh Added comment: 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.
Hereditary neuropathy or pain disorder v1.8 C1orf194 Arina Puzriakova changed review comment from: PMID: 32592472 (2020) - Another knockout mouse model by same research group, demonstrating defects in motor and sensory functions, myelination abnormalities, peripheral nerve loss and muscle atrophy.; to: 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.
Hereditary neuropathy or pain disorder v1.8 C1orf194 Arina Puzriakova edited their review of gene: C1orf194: Added comment: PMID: 32592472 (2020) - Another knockout mouse model by same research group, demonstrating defects in motor and sensory functions, myelination abnormalities, peripheral nerve loss and muscle atrophy.; Changed publications: 32592472; Changed phenotypes: Charcot-Marie-Tooth
Hereditary neuropathy or pain disorder v1.8 C1orf194 Arina Puzriakova Publications for gene: C1orf194 were set to 31199454
Hereditary neuropathy or pain disorder v1.7 C1orf194 Arina Puzriakova Classified gene: C1orf194 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v1.7 C1orf194 Arina Puzriakova Added comment: Comment on list classification: This is has been added with an Amber rating, in accordance with the expert review by Zornitza Stark.
Hereditary neuropathy or pain disorder v1.7 C1orf194 Arina Puzriakova Gene: c1orf194 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v1.4 C1orf194 Zornitza Stark 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
Added comment: 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