ATXN10

ataxin 10
OMIM: 611150, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red ATXN10 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Spinocerebellar Ataxia 10
  • Parkinsonism
  • OMIM 603516
Tags
  • STR

Red ATXN10 in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis

No list ATXN10 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews Unknown
Sources
  • Expert Review Removed
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services

Red ATXN10 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Spinocerebellar ataxia 10, MIM#603516

Red ATXN10 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

0 reviews Not set
Sources
  • Emory Genetics Laboratory

Green ATXN10_SCA10_ATTCT STR in Mendeliome


Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 10 MIM#603516

Green ATXN10_SCA10_ATTCT STR in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 10 MIM#603516

Green ATXN10_SCA10_ATTCT STR in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert List
Phenotypes
  • Spinocerebellar ataxia 10 MIM#603516

Green ATXN10_SCA10_ATTCT STR in Repeat Disorders


Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 10 MIM#603516
Tags
  • adult-onset