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Hereditary ataxia - adult onset

STR: ATXN3_CAG

Green List (high evidence)

Chromosome: 14
GRCh37 Position: 92537355-92537396
GRCh38 Position: 92071011-92071052
Repeated Sequence: CAG
Normal Number of Repeats: < or = 44
Pathogenic Number of Repeats: = or > 60

ATXN3 (ataxin 3)
EnsemblGeneIds (GRCh38): ENSG00000066427
EnsemblGeneIds (GRCh37): ENSG00000066427
OMIM: 607047, Gene2Phenotype
ATXN3 is in 13 panels

1 review

Louise Daugherty (Genomics England Curator)

Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Created: 5 Aug 2019, 3:11 p.m. | Last Modified: 5 Aug 2019, 3:11 p.m.
Panel Version: 1.194
Green rating for STR submitted on behalf of James Polke, on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 9:33 p.m. | Last Modified: 7 Jul 2019, 4:09 p.m.
Panel Version: 1.177
Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert list
Created: 21 Dec 2018, 12:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Machado-Joseph disease 109150

Details

Name
ATXN3_CAG
Chromosome
14
GRCh37 Coordinates
92537355-92537396
GRCh38 Coordinates
92071011-92071052
Repeated Sequence
CAG
Normal Number of Repeats: < or =
44
Pathogenic Number of Repeats: = or >
60
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Expert list
Phenotypes
  • Machado-Joseph disease, OMIM:109150
Tags
STR
OMIM
607047
Clinvar variants
Variants in ATXN3
Penetrance
None

History Filter Activity

5 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease, OMIM:109150

7 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: ATXN3_CAG.

7 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: ATXN3_CAG.

7 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to STR: ATXN3_CAG.

9 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Source PanelApp panels : Hered

21 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: atxn3_cag has been classified as Green List (High Evidence).

21 Dec 2018, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

STR: ATXN3_CAG was added STR: ATXN3_CAG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: ATXN3_CAG. Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150