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Hereditary Neuropathy - complex

Gene: C12orf65

Green List (high evidence)
C12orf65 (chromosome 12 open reading frame 65)
EnsemblGeneIds (GRCh38): ENSG00000130921
EnsemblGeneIds (GRCh37): ENSG00000130921
OMIM: 613541, Gene2Phenotype
C12orf65 is in 11 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Note: HGNC approved name for this gene is MTRFR

PMID: 20301682
Complex childhood form of spastic paraplegia (SPG55)
Polyneuropathy ,developmental delay and visual loss are clinical features of SPG55

PMID: 23188110
two siblings from a consaguineous family and novel homozygous nonsense mutation was identified in C12orf65 (p.R132X).

PMID: 3479531, 24198383
Spastic paraplegia identified in 3 affected individuals from the same family.
V116X truncating mutation was identified in the two affected individuals.
Created: 1 Aug 2023, 4:46 a.m. | Last Modified: 1 Aug 2023, 4:46 a.m.
Panel Version: 0.205

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 55 (MIM#615035)

Publications

Created: 1 Aug 2023, 4:46 a.m.
Last Modified: 1 Aug 2023, 4:46 a.m.
Panel version: 0.205

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 55, autosomal recessive, MIM#615035
  • HMSN
Tags
new gene name
OMIM
613541
Clinvar variants
Variants in C12orf65
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: c12orf65 has been classified as Green List (High Evidence).

2 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: C12orf65 were set to

2 Aug 2023, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: C12orf65.

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: C12orf65 was added gene: C12orf65 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C12orf65 were set to Spastic paraplegia 55, autosomal recessive, MIM#615035; HMSN