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Severe Paediatric Disorders

Gene: STUB1

Green List (high evidence)

STUB1 (STIP1 homology and U-box containing protein 1)
EnsemblGeneIds (GRCh38): ENSG00000103266
EnsemblGeneIds (GRCh37): ENSG00000103266
OMIM: 607207, Gene2Phenotype
STUB1 is in 8 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: STUB1; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Spinocerebellar ataxia 48, 618093 (3) | Spinocerebellar ataxia, autosomal recessive 16, 615768 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 16, 615768
  • ?Spinocerebellar ataxia 48, 618093
OMIM
607207
Clinvar variants
Variants in STUB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene STUB1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768; ?Spinocerebellar ataxia 48, 618093 for gene: STUB1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768; ?Spinocerebellar ataxia 48, 618093 for gene: STUB1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768; ?Spinocerebellar ataxia 48, 618093 for gene: STUB1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768; ?Spinocerebellar ataxia 48, 618093 for gene: STUB1

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene STUB1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768; ?Spinocerebellar ataxia 48, 618093 for gene: STUB1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to STUB1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to STUB1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: STUB1 was added gene: STUB1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: STUB1 was set to