Hereditary ataxia with onset in adulthood
Gene: STUB1The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:30 p.m. | Last Modified: 1 Feb 2023, 2:30 p.m.
Panel Version: 3.10
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous STUB1 variants have been reported in both Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 and Spinocerebellar ataxia 48, OMIM:618093.
PMIDs 34906452; 35493319 report digenic occurrence of heterozygous STUB1 variants, with TBP_CAG expansions of 41-46. They question the validy of Spinocerebellar ataxia 48 (OMIM:618093) as a condition and whether it should be included into Spinocerebellar ataxia 17 (OMIM:607136).Created: 13 Sep 2022, 11:38 a.m. | Last Modified: 13 Sep 2022, 11:38 a.m.
Panel Version: 2.162
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Updated inheritance from biallelic to both monoallelic and biallelic following additional reports. Also emerging evidence of digenic interaction with TBP (SCA17) 'intermediate' CAG expansions.Created: 1 Sep 2022, 7:32 a.m. | Last Modified: 1 Sep 2022, 7:32 a.m.
Panel Version: 2.158
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cerebellar Ataxia; Dementia
Publications
Variants in this GENE are reported as part of current diagnostic practice
On Ox and Sheffield panels. SCAR16.Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Multiple reports in the literature for recessive variant. Note that a single family has been reported in lit with apparent AD inheritance of a final exon truncating variant (PMID 30381368), also some evidence in our own patient cohort of heterozygous variants segregating with disease. Should consider reporting heterozygous variantsCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia type 16, 615768
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_22_MOI was removed from gene: STUB1.
Mode of inheritance for gene STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q3_22_MOI tag was added to gene: STUB1.
Phenotypes for gene: STUB1 were changed from Autosomal recessive spinocerebellar ataxia type 16, 615768; Spinocerebellar ataxia, autosomal recessive 16 to Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768; autosomal recessive spinocerebellar ataxia 16, MONDO:0014339; Spinocerebellar ataxia 48, OMIM:618093; spinocerebellar ataxia 48, MONDO:0032526
Publications for gene: STUB1 were set to 32713943; 33564152; 35493319; 34906452
Publications for gene: STUB1 were set to
Source London North GMS was added to STUB1.
Added phenotypes Autosomal recessive spinocerebellar ataxia type 16, 615768 for gene: STUB1
Source NHS GMS was added to STUB1.
Source Wessex and West Midlands GLH was added to STUB1.
Checked panel against panel constituents. Ready to promote to version 1.
gene: STUB1 was added gene: STUB1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16