Adult onset neurodegenerative disorder

Gene: C12orf65

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

Created: 24 Feb 2021, 2:49 p.m. | Last Modified: 24 Feb 2021, 2:49 p.m.

Panel Version: 2.39

Red List (low evidence)

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

Red List (low evidence)

Onset in early childhood

Created: 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

Red List (low evidence)

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 Red

Created: 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.

Red List (low evidence)