Optic neuropathy

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 18 panels

3 reviews

Catherine Snow (Genomics England)

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

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, 615035

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

23 Aug 2021, Gel status: 3

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

23 Aug 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: C12orf65 were set to 28091420; 25995486; 23188110; 24198383; 24284555; 24424123

24 Feb 2021, Gel status: 3

Added Tag

Catherine Snow (Genomics England)

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

20 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

20 Mar 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: C12orf65 were set to 28091420; 25995486

19 Mar 2019, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: C12orf65 were changed from to SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, 615035

19 Mar 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: C12orf65 were set to

19 Mar 2019, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: C12orf65 was changed from to BIALLELIC, autosomal or pseudoautosomal

19 Mar 2019, Gel status: 2

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