Optic neuropathy
Gene: C12orf65Added 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
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.
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
Publications for gene: C12orf65 were set to 28091420; 25995486; 23188110; 24198383; 24284555; 24424123
Tag new-gene-name tag was added to gene: C12orf65.
Gene: c12orf65 has been classified as Green List (High Evidence).
Publications for gene: C12orf65 were set to 28091420; 25995486
Phenotypes for gene: C12orf65 were changed from to SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, 615035
Publications for gene: C12orf65 were set to
Mode of inheritance for gene: C12orf65 was changed from to BIALLELIC, autosomal or pseudoautosomal
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