Retinal disordersGene: C12orf65
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
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
Phenotypes for gene: C12orf65 were changed from to Combined oxidative phosphorylation deficiency 7, OMIM:613559; Spastic paraplegia 55, autosomal recessive, OMIM:615035
Mode of inheritance for gene: C12orf65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Tag new-gene-name tag was added to gene: C12orf65.
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