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  3. C12orf65
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Hereditary Spastic Paraplegia - paediatric

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 3 unrelated families reported with this phenotype. Bi-allelic variants in this gene are also associated with a multi-system mitochondrial disorder, but it is unclear if these are distinct.

Note HGNC approved name for this gene is MTRFR.
Created: 14 Mar 2021, 1:24 a.m. | Last Modified: 14 Mar 2021, 1:24 a.m.
Panel Version: 0.178

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 55, autosomal recessive, MIM# 615035

Publications

Created: 14 Mar 2021, 1:24 a.m.
Last Modified: 14 Mar 2021, 1:24 a.m.
Panel version: 0.178

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 55, autosomal recessive, 615035
  • optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy
  • Combined oxidative phosphorylation deficiency 7, 613559
Tags
new gene name
OMIM
613541
Clinvar variants
Variants in C12orf65
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Mar 2021, 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).

14 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: C12orf65 were set to

31 Dec 2019, 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 Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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, 615035; optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559