Hereditary spastic paraplegia
Gene: C12orf65Added new-gene-name tag, new approved HGNC gene symbol for C12orf65 is MTRFRCreated: 24 Feb 2021, 2:44 p.m. | Last Modified: 24 Feb 2021, 2:44 p.m.
Panel Version: 1.219
Comment when marking as ready: More than 3 unrelated casesCreated: 9 Mar 2016, 4:32 p.m.
Phenotypes for gene: C12orf65 were changed from Spasticparaplegia55,autosomalrecessive,615035 to Spastic paraplegia 55, autosomal recessive, OMIM:615035
Tag new-gene-name tag was added to gene: C12orf65.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene C12orf65 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene C12orf65 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene C12orf65 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene C12orf65 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene C12orf65 was changed to BIALLELIC, autosomal or pseudoautosomal
C12orf65 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
C12orf65 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen