This Panel is marked as Deleted
Mitochondrial disorders AD Victorian Clinical Genetics Services
Gene: C12orf65
C12orf65 (chromosome 12 open reading frame 65)
EnsemblGeneIds (GRCh38): ENSG00000130921
EnsemblGeneIds (GRCh37): ENSG00000130921
OMIM: 613541, Gene2Phenotype
C12orf65 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000130921
EnsemblGeneIds (GRCh37): ENSG00000130921
OMIM: 613541, Gene2Phenotype
C12orf65 is in 17 panels
1 review
Catherine Snow (Genomics England)
Added new-gene-name tag, new approved HGNC gene symbol for C12orf65 is MTRFRCreated: 24 Feb 2021, 2:40 p.m. | Last Modified: 24 Feb 2021, 2:40 p.m.
Panel Version: 0.4
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Tags
- OMIM
- 613541
- Clinvar variants
- Variants in C12orf65
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Optic neuropathy
- Arthrogryposis
- Mitochondrial disorders
- Retinal disorders
- Likely inborn error of metabolism
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
24 Feb 2021, Gel status: 3
Added Tag
Catherine Snow (Genomics England)Tag new-gene-name tag was added to gene: C12orf65.
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)C12orf65 was added to Mitochondrial disorders AD Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)C12orf65 was created by Sarah Leigh