Hereditary neuropathy
Gene: C12orf65Added new-gene-name tag, new approved HGNC gene symbol for C12orf65 is MTRFRCreated: 24 Feb 2021, 2:52 p.m. | Last Modified: 24 Feb 2021, 2:52 p.m.
Panel Version: 1.383
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
The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
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.
Publications for gene C12orf65 were changed from to 24198383; 28091420
Source South West GLH was added to C12orf65.
Source NHS GMS was added to C12orf65.
Source London North GLH was added to C12orf65. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for C12orf65 were set to
Mode of inheritance for C12orf65 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
C12orf65 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list