Hereditary neuropathy or pain disorder
Gene: C12orf65Added new-gene-name tag, new approved HGNC gene symbol for C12orf65 is MTRFRCreated: 24 Feb 2021, 2:53 p.m. | Last Modified: 24 Feb 2021, 2:53 p.m.
Panel Version: 1.23
Optic atrophy appears to be main feature with peripheral neuropathy as additional. PMID: 28091420- compound heterozygous for frameshift and nonsense variant in child who developed peripheral neuropathy developed after optic symptoms. PMID: 24198383- homozygous nonsense variant in 3 affected family members with axonal neuropathy and optic atrophy (2 brothers plus a cousin)Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
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/.Created: 6 Dec 2019, 2:09 p.m. | Last Modified: 6 Dec 2019, 2:09 p.m.
Panel Version: 0.33
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Comment on mode of inheritance: Source: OMIM and G2P.Created: 4 May 2016, 9:44 a.m.
Comment on list classification: Promoted from red to green due to expert review, and is a confirmed DD gene for combined oxidative phosphorylatuon deficiency 7. Associated with Combined oxidative phosphorylation deficiency 7 and Spastic paraplegia 55, autosomal recessive in OMIM.Created: 4 May 2016, 9:44 a.m.
neuropathy is commonCreated: 9 Dec 2015, 4:49 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Complex HSPCreated: 9 Dec 2015, 8:50 a.m.
Complex HSPCreated: 8 Dec 2015, 3:06 p.m.
Phenotypes for gene: C12orf65 were changed from to Combined oxidative phosphorylation deficiency 7, OMIM:613559; Spastic paraplegia 55, autosomal recessive, OMIM:615035
Tag new-gene-name tag was added to gene: C12orf65.
Gene: c12orf65 has been classified as Amber List (Moderate Evidence).
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