Optic neuropathy
Gene: C12orf65EnsemblGeneIds (GRCh38): ENSG00000130921
EnsemblGeneIds (GRCh37): ENSG00000130921
OMIM: 613541, Gene2Phenotype
C12orf65 is in 17 panels
3 reviews
Catherine Snow (Genomics England)
Added new-gene-name tag, new approved HGNC gene symbol for C12orf65 is MTRFRCreated: 24 Feb 2021, 2:48 p.m. | Last Modified: 24 Feb 2021, 2:48 p.m.
Panel Version: 2.35
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from amber to green. C12orf65 is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases with different variants in this gene described in OMIM associated with optic atrophy. Therefore, based on the former and the evidence provided by the expert review, there is enough evidence to promote this gene to green status.Created: 20 Mar 2019, 11:01 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- London North GLH
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 7, OMIM:613559
- Spastic paraplegia 55, autosomal recessive, OMIM:615035
- Tags
- OMIM
- 613541
- Clinvar variants
- Variants in C12orf65
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial disorders
- Retinal disorders
- DDG2P
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Arthrogryposis
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: C12orf65 were changed from SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, 615035 to Combined oxidative phosphorylation deficiency 7, OMIM:613559; Spastic paraplegia 55, autosomal recessive, OMIM:615035
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: C12orf65 were set to 28091420; 25995486; 23188110; 24198383; 24284555; 24424123
Added Tag
Catherine Snow (Genomics England)Tag new-gene-name tag was added to gene: C12orf65.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: c12orf65 has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: C12orf65 were set to 28091420; 25995486
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: C12orf65 were changed from to SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, 615035
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: C12orf65 were set to
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: C12orf65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: C12orf65 was added gene: C12orf65 was added to Optic neuropathy. Sources: London North GLH,Expert Review Amber Mode of inheritance for gene: C12orf65 was set to