Cerebellar hypoplasia
Gene: STUB1EnsemblGeneIds (GRCh38): ENSG00000103266
EnsemblGeneIds (GRCh37): ENSG00000103266
OMIM: 607207, Gene2Phenotype
STUB1 is in 7 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment 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
Alice Gardham (Genomics England)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Literature
- Phenotypes
-
- 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
- OMIM
- 607207
- Clinvar variants
- Variants in STUB1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: STUB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: STUB1 were set to 24312598
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
Added New Source
Alice Gardham (Genomics England)STUB1 was added to Cerebellar hypoplasiapanel. Sources: Literature
Created
Alice Gardham (Genomics England)STUB1 was created by agardham