Adult onset neurodegenerative disorder
Gene: C12orf65Added new-gene-name tag, new approved HGNC gene symbol for C12orf65 is MTRFRCreated: 24 Feb 2021, 2:49 p.m. | Last Modified: 24 Feb 2021, 2:49 p.m.
Panel Version: 2.39
visual difficulties beginning at age 7 years followed by slowly progressive muscular atrophy and weakness in the lower extremitiesin second decade, at least 3 cases Homozygous mutation in the C12ORF65 gene can also cause a more severe disorder, COXPD7 : a complex phenotype associated with a combined mitochondrial oxidative phosphorylation deficiency - failure to thrive and psychomotor regression beginning at age 1 year, 2 families reported. Not sure either of these fit the clinical indication - red.Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spasticparaplegia55,autosomalrecessive,615035
Onset in early childhoodCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spasticparaplegia55,autosomalrecessive,615035
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Phenotypes for gene: C12orf65 were changed from Spasticparaplegia55,autosomalrecessive,615035 to Spastic paraplegia 55, autosomal recessive, OMIM:615035
Tag new-gene-name tag was added to gene: C12orf65.
Source Expert Review Red was added to C12orf65. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to C12orf65.
Source Yorkshire and North East GLH was added to C12orf65.
Source NHS GMS was added to C12orf65.
Source London North GLH was added to C12orf65.
Louise Daugherty: Comment on phenotypes: amended
gene: C12orf65 was added gene: C12orf65 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C12orf65 were set to Shimazaki et al. (2012) Phenotypes for gene: C12orf65 were set to Spasticparaplegia55,autosomalrecessive,615035