STUB1:Ensemblv115

STIP1 homology and U-box containing protein 1
OMIM: 607207, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green STUB1 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 48 MIM#618093
  • cognitive impairment
  • Spinocerebellar ataxia, autosomal recessive 16 MIM#615768

Green STUB1 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Spinocerebellar Ataxia 48, OMIM 618093
  • Parkinsonism

Green STUB1 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green STUB1 in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Royal Melbourne Hospital
  • Expert list
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 48, MIM#618093

Green STUB1 in Hereditary Neuropathy - complex


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768

Green STUB1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)

Green STUB1 in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 16 MIM#615768