Ataxia and cerebellar anomalies - narrow panel
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: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
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, 11:54 a.m. | Last Modified: 13 Sep 2022, 11:54 a.m.
Panel Version: 2.305
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q3_22_MOI was removed from gene: STUB1.
Source NHS GMS was added to 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 Spinocerebellar ataxia, autosomal recessive 16; Spinocerebellar ataxia, autosomal recessive 16 615768 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 24312598
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Spinocerebellar ataxia, autosomal recessive 16 615768 for gene: STUB1 Publications for gene STUB1 were changed from to 24312598
gene: STUB1 was added gene: STUB1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: 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