Cerebellar hypoplasia
Gene: STUB1Comment on mode of inheritance: 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, 11:59 a.m. | Last Modified: 13 Sep 2022, 11:59 a.m.
Panel Version: 1.67
Usually cerebellar atrophy although hypoplasia reported. Often onset teens/adulthoodCreated: 16 Nov 2016, 10:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 16 615768
Publications
Mode of inheritance for gene: STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: STUB1 were changed from 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
22/02/2017: Panel revised after internal clinical review and further curation.
STUB1 was added to Cerebellar hypoplasiapanel. Sources: Literature
STUB1 was created by agardham