Hereditary neuropathy

Gene: C12orf65

Added new-gene-name tag, new approved HGNC gene symbol for C12orf65 is MTRFR

Created: 24 Feb 2021, 2:52 p.m. | Last Modified: 24 Feb 2021, 2:52 p.m.

Panel Version: 1.383

Green List (high evidence)

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

• 28091420
• 24198383

Green List (high evidence)

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.

Green List (high evidence)

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.

Green List (high evidence)

neuropathy is common

Created: 9 Dec 2015, 4:49 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Complex HSP

Created: 9 Dec 2015, 8:50 a.m.

Complex HSP

Created: 8 Dec 2015, 3:06 p.m.