1. Panels
  2. Early-onset Parkinson disease
  3. ATXN1_CAG
Regions in panel
Prev Next

Early-onset Parkinson disease

STR: ATXN1_CAG

Green List (high evidence)
Chromosome: 6
GRCh37 Position: 16327867-16327953
GRCh38 Position: 16327636-16327722
Repeated Sequence: CAG
Normal Number of Repeats: < 36
Pathogenic Number of Repeats: = or > 45

ATXN1 (ataxin 1)
EnsemblGeneIds (GRCh38): ENSG00000124788
EnsemblGeneIds (GRCh37): ENSG00000124788
OMIM: 601556, Gene2Phenotype
ATXN1 is in 0 panels

1 review

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 24 Jul 2022, 9:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar Ataxia type 1; Parkinsonism; OMIM 164400

Publications

Created: 24 Jul 2022, 9:03 a.m.

Panel version: 0.215

Details

Name
ATXN1_CAG
Chromosome
6
GRCh37 Coordinates
16327867-16327953
GRCh38 Coordinates
16327636-16327722
Repeated Sequence
CAG
Normal Number of Repeats: <
36
Pathogenic Number of Repeats: = or >
45
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar Ataxia type 1
  • Parkinsonism
  • OMIM 164400
OMIM
601556
Clinvar variants
Variants in ATXN1
Penetrance
None
Publications

History Filter Activity

26 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Str: atxn1_cag has been classified as Green List (High Evidence).

26 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Str: atxn1_cag has been classified as Green List (High Evidence).

24 Jul 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

STR: ATXN1_CAG was added STR: ATXN1_CAG was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATXN1_CAG were set to • PMID: 24602359 Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar Ataxia type 1; Parkinsonism; OMIM 164400 Review for STR: ATXN1_CAG was set to GREEN