Hereditary spastic paraplegia - 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)

Green List (high evidence)

STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.
Created: 22 May 2019, 12:14 p.m.
Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment: str. Diagnostic utility in question due to the expansion size > 60 CAGs
Created: 26 Apr 2019, 1:08 p.m.
Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Created: 26 Apr 2019, 11:53 a.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
  • NHS GMS
  • South West GLH
  • London North GLH
  • Expert Review Green
  • Expert list
Phenotypes
  • Machado-Joseph disease 109150
Tags
STR
OMIM
607047
Clinvar variants
Variants in ATXN3
Penetrance
None

History Filter Activity

26 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: ATXN3_CAG.

26 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to STR: ATXN3_CAG.

26 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: ATXN3_CAG.

26 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to STR: ATXN3_CAG. Rating Changed from Red List (low evidence) to Green List (high evidence)

26 Apr 2019, 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 spastic paraplegia - 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 Review for STR: ATXN3_CAG was set to GREEN