Hereditary ataxia
Gene: SYNE1Comment when marking as ready: Good evidence from OMIM and expert reviewCreated: 2 Feb 2016, 10:05 a.m.
Fine. Lots of evidence in lit, positives in our cohortCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar Ataxia ; Spinocerebellar ataxia, autosomal recessive 8
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SYNE1 were changed from Cerebellar Ataxia ; Spinocerebellar ataxia, autosomal recessive 8 to Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743; Autosomal recessive ataxia, Beauce type, MONDO:0012549
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene SYNE1 was changed to BIALLELIC, autosomal or pseudoautosomal
SYNE1 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene SYNE1 was changed to BIALLELIC, autosomal or pseudoautosomal
SYNE1 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
SYNE1 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN