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Retinal disorders

Gene: C12orf65

Amber List (moderate evidence)

C12orf65 (chromosome 12 open reading frame 65)
EnsemblGeneIds (GRCh38): ENSG00000130921
EnsemblGeneIds (GRCh37): ENSG00000130921
OMIM: 613541, Gene2Phenotype
C12orf65 is in 18 panels

2 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for C12orf65 is MTRFR
Created: 24 Feb 2021, 2:53 p.m. | Last Modified: 24 Feb 2021, 2:53 p.m.
Panel Version: 2.172

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.
Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5

History Filter Activity

23 Aug 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: C12orf65 were changed from to Combined oxidative phosphorylation deficiency 7, OMIM:613559; Spastic paraplegia 55, autosomal recessive, OMIM:615035

23 Aug 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

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

24 Feb 2021, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

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

27 Dec 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 Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: C12orf65 was set to