Renal ciliopathies and nephronophthisis_KidGen_VCGS
Gene: ATXN10EnsemblGeneIds (GRCh38): ENSG00000130638
EnsemblGeneIds (GRCh37): ENSG00000130638
OMIM: 611150, Gene2Phenotype
ATXN10 is in 17 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- KidGen_CilioNephronop v38.1.0
- Expert Review Green
- OMIM
- 611150
- Clinvar variants
- Variants in ATXN10
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Skeletal dysplasia
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset hereditary spastic paraplegia
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Early onset dystonia
- Hereditary ataxia with onset in adulthood
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: ATXN10 was added gene: ATXN10 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: ATXN10 was set to Unknown