This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
Gene: ATXN10
ATXN10 (ataxin 10)
EnsemblGeneIds (GRCh38): ENSG00000130638
EnsemblGeneIds (GRCh37): ENSG00000130638
OMIM: 611150, Gene2Phenotype
ATXN10 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000130638
EnsemblGeneIds (GRCh37): ENSG00000130638
OMIM: 611150, Gene2Phenotype
ATXN10 is in 17 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- KidGen_CilioNephronop v38.1.0
- Expert Review Red
- Phenotypes
-
- Nephronophthisis
- OMIM
- 611150
- Clinvar variants
- Variants in ATXN10
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Skeletal dysplasia
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Early onset dystonia
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy
- Childhood onset hereditary spastic paraplegia
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
28 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: ATXN10 was added gene: ATXN10 was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Red,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: ATXN10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATXN10 were set to 21565611 Phenotypes for gene: ATXN10 were set to Nephronophthisis