Hereditary ataxia
Gene: AFG3L2Comment when marking as ready: Good evidence from expert reviewer and OMIMCreated: 2 Feb 2016, 9:54 a.m.
Comment on mode of pathogenicity: Dominant negativeCreated: 2 Feb 2016, 9:54 a.m.
Comment on mode of inheritance: OMIM describes both AD and AR forms as wellCreated: 2 Feb 2016, 9:53 a.m.
Fine. Lots of eviedence in literature. Positives in our cohort. Variants be dominant negativeCreated: 24 Nov 2015, 4:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 28; Ataxia, spastic, 5, autosomal recessive; Spinocerebellar Ataxia, Dominant
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance differed between sources; dominant (Illumina), recessive (Radboud), both (UKGTN).Created: 6 Jul 2015, 12:18 p.m.
Phenotypes for gene: AFG3L2 were changed from Spinocerebellar ataxia 28; Ataxia, spastic, 5, autosomal recessive; Spinocerebellar Ataxia, Dominant to Spinocerebellar ataxia 28, OMIM:610246; Spastic ataxia 5, autosomal recessive, OMIM:614487
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for AFG3L2 was changed to Other - please provide details in the comments
Mode of inheritance for AFG3L2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene AFG3L2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
AFG3L2 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene AFG3L2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
AFG3L2 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
AFG3L2 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN