ATN1

atrophin 1
OMIM: 607462, Gene2Phenotype

23 panels

Panel Reviews Mode of inheritance Details
23 panels

Red ATN1 in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.48

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion

Red ATN1 in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.55

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion

Red ATN1 in Ataxia and cerebellar anomalies - narrow panel


Version 1.7

review Other - please specifiy in evaluation comments
Sources
  • Expert Review Red

Red ATN1 in Hereditary ataxia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.202

review Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion

Red ATN1 in Dystonia - childhood onset


Version 1.8

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion

Red ATN1 in Paroxysmal central nervous system disorders


Version 0.168

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Dentatorubro-pallidoluysian atrophy, 125370

Red ATN1 in Neurodegenerative disorders - adult onset


Version 1.106

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Expert Review Red
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion

Amber ATN1 in DDG2P


Version 1.137

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • DD-Gene2Phenotype
Phenotypes
  • congenital hypotonia, epilepsy, developmental delay, digit abnormalities

Green ATN1 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 1.365

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review
  • Expert Review Green
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Generalized hypotonia

Green ATN1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1066

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Generalized hypotonia
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Feeding difficulties
  • Abnormality of the cardiovascular system
  • Cleft palate
  • Abnormality of the kidney

Red ATN1 in Hereditary ataxia - adult onset


Version 1.211

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
  • Brain channelopathy v1.46
  • Hereditary ataxia v1.148
Phenotypes
  • Dentato-pallidoluysian atrophy
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • nucleotide-repeat-expansion
  • currently-ngs-unreportable

Red ATN1 in Adult onset movement disorder


Version 0.125

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • South West GLH
  • Expert Review Red
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370

Green ATN1_CAG STR in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.66

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • STR

Green ATN1_CAG STR in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.48

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • STR

Green ATN1_CAG STR in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.55

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • STR

Green ATN1_CAG STR in Ataxia and cerebellar anomalies - narrow panel


Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • STR

Green ATN1_CAG STR in Hereditary ataxia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.202

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • STR

Green ATN1_CAG STR in Dystonia - childhood onset


Version 1.8

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • STR

Red ATN1_CAG STR in Paroxysmal central nervous system disorders


Version 0.168

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • STR

Green ATN1_CAG STR in Neurodegenerative disorders - adult onset


Version 1.106

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • London North GLH
  • Expert Review Green
  • Expert list
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • STR

Green ATN1_CAG STR in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 1.365

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • STR

Green ATN1_CAG STR in Hereditary ataxia - adult onset


Version 1.211

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Expert list
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • STR

Green ATN1_CAG STR in Adult onset movement disorder


Version 0.125

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • STR