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  3. RUBCN
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Ataxia - paediatric

Gene: RUBCN

Green List (high evidence)
RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000145016
EnsemblGeneIds (GRCh37): ENSG00000145016
OMIM: 613516, Gene2Phenotype
RUBCN is in 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Also supporting in vitro functional assays.
Created: 17 Apr 2020, 3:59 a.m. | Last Modified: 17 Apr 2020, 3:59 a.m.
Panel Version: 0.181
Created: 17 Apr 2020, 3:59 a.m.
Last Modified: 17 Apr 2020, 3:59 a.m.
Panel version: 0.181

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three consanguineous families reported in the literature with homozygous truncating variants in this gene and ataxia. Two have the same founder variant.
Created: 19 Nov 2019, 8:21 a.m. | Last Modified: 12 Sep 2020, 7:42 a.m.
Panel Version: 0.251

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 15, MIM#615705

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Nov 2019, 8:21 a.m.
Last Modified: 12 Sep 2020, 7:42 a.m.
Panel version: 0.251

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Royal Melbourne Hospital Clinical Genetics Department
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 15, MIM#615705
OMIM
613516
Clinvar variants
Variants in RUBCN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rubcn has been classified as Green List (High Evidence).

17 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RUBCN were changed from ?Spinocerebellar ataxia, autosomal recessive 15 to Spinocerebellar ataxia, autosomal recessive 15, MIM#615705

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rubcn has been classified as Green List (High Evidence).

19 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: RUBCN was added gene: RUBCN was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RUBCN were set to 20826435; 23728897 Phenotypes for gene: RUBCN were set to ?Spinocerebellar ataxia, autosomal recessive 15