Hereditary spastic paraplegia - childhood onset

STR: ATXN1_CAG

Amber List (moderate evidence)

Chromosome: 6
GRCh37 Position: 16327867-16327953
GRCh38 Position: 16327636-16327722
Repeated Sequence: CAG
Normal Number of Repeats: < or = 35
Pathogenic Number of Repeats: = or > 44

ATXN1 (ataxin 1)
EnsemblGeneIds (GRCh38): ENSG00000124788
EnsemblGeneIds (GRCh37): ENSG00000124788
OMIM: 601556, Gene2Phenotype
ATXN1 is in 13 panels

2 reviews

Arianna Tucci (Genomics England Curator)

I don't know

Onset is normally in the 3rd or 4th decade, but childhood onset has been reported
Created: 26 Feb 2019, 11 a.m.

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May Agreed to change the rating from Green to Amber.
Created: 22 May 2019, 11:10 a.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.
Created: 28 Apr 2019, 4:20 p.m.
Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Created: 21 Dec 2018, 1:40 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 1 164400

Details

Name
ATXN1_CAG
Chromosome
6
GRCh37 Coordinates
16327867-16327953
GRCh38 Coordinates
16327636-16327722
Repeated Sequence
CAG
Normal Number of Repeats: < or =
35
Pathogenic Number of Repeats: = or >
44
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 1 164400
Tags
STR
OMIM
601556
Clinvar variants
Variants in ATXN1
Penetrance
None

History Filter Activity

22 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: atxn1_cag has been classified as Amber List (Moderate Evidence).

28 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: atxn1_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: ATXN1_CAG was added STR: ATXN1_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: ATXN1_CAG. Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400 Review for STR: ATXN1_CAG was set to GREEN