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Hereditary neuropathy or pain disorder v6.148 C12orf65 Sarah Leigh Tag Q3_24_promote_green was removed from gene: C12orf65.
Tag Q3_24_NHS_review was removed from gene: C12orf65.
Hereditary neuropathy or pain disorder v6.148 C12orf65 Sarah Leigh commented on gene: C12orf65: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v6.147 C12orf65 Sarah Leigh Source Expert Review Green was added to C12orf65.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.22 C12orf65 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: C12orf65.
Tag Q3_24_NHS_review tag was added to gene: C12orf65.
Hereditary neuropathy or pain disorder v6.20 C12orf65 Sarah Leigh reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: 24198383, 23188110, 24424123, 24080142; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 C12orf65 Alexander Rossor edited their review of gene: C12orf65: Added comment: PN in multiple affected individuals from different families; Changed rating: GREEN; Changed publications to: 24080142: 23188110: 6303658: 24424123: 24198383; Changed phenotypes to: optic atrophy, spasticity, peripheral neuropathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v5.19 C12orf65 Alexander Rossor Deleted their comment
Hereditary neuropathy or pain disorder v1.53 C12orf65 Arina Puzriakova Phenotypes for gene: C12orf65 were changed from to Combined oxidative phosphorylation deficiency 7, OMIM:613559; Spastic paraplegia 55, autosomal recessive, OMIM:615035
Hereditary neuropathy or pain disorder v1.23 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Hereditary neuropathy or pain disorder v1.23 C12orf65 Catherine Snow commented on gene: C12orf65
Hereditary neuropathy or pain disorder v0.33 C12orf65 Louise Daugherty Classified gene: C12orf65 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.33 C12orf65 Louise Daugherty Added comment: Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.33 C12orf65 Louise Daugherty Gene: c12orf65 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v0.1 C12orf65 Ellen McDonagh gene: C12orf65 was added
gene: C12orf65 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Expert Review Green,South West GLH
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf65 were set to 24198383; 28091420