Hereditary ataxia
Gene: SPTBN2Please see comments from Alisdair Mcneill. I have discussed this with the Genomics England Clinical team, and the decision was made to keep this gene as Green with 'both' as the mode of inheritance as there are sufficient cases reported for dominant inheritance, however interpretation of a single missense variant in this gene requires caution and verification of segregation.Created: 13 Aug 2018, 4:15 p.m.
a note of caution; I have seen 2 families in clinical practice with dominant inheritance of ataxia - proband found to have an SPTBN2 variant and called SCA5, subsequently these missense variants did not segregate. I am a now uncertain if this is a genuine dominant ataxia gene or not and might suggest some caution in reporting...Created: 15 Apr 2018, 9:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment when marking as ready: Good evidence from OMIM and expert reviewCreated: 2 Feb 2016, 10:05 a.m.
Fine. Loads of evidence in lit. Mode of inheritance: AD/AR (AD may be Dominant Negative)Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia 5; Spinocerebellar ataxia, autosomal recessive 14; Spinocerebellar Ataxia, Dominant; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant); SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SPTBN2 were changed from Spinocerebellar ataxia 5; Spinocerebellar ataxia, autosomal recessive 14; Spinocerebellar Ataxia, Dominant; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant); SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 to Spinocerebellar ataxia 5, OMIM:600224; Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene SPTBN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
SPTBN2 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene SPTBN2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
SPTBN2 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
SPTBN2 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN