Hereditary spastic paraplegia - childhood onset

STR: ATXN7_CAG

Amber List (moderate evidence)

Chromosome: 3
GRCh37 Position: 63898362-63898391
GRCh38 Position: 63912686-63912715
Repeated Sequence: CAG
Normal Number of Repeats: < or = 34
Pathogenic Number of Repeats: = or > 36

ATXN7 (ataxin 7)
EnsemblGeneIds (GRCh38): ENSG00000163635
EnsemblGeneIds (GRCh37): ENSG00000163635
OMIM: 607640, Gene2Phenotype
ATXN7 is in 12 panels

2 reviews

Arianna Tucci (Genomics England Curator)

I don't know

childhood onset typically presents with a rapidly progressive disease consisting of neonatal hypotonia, developmental delay, dysphagia, congestive heart failure, cerebral and cerebellar atrophy, and retinal disease
Created: 26 Feb 2019, 11:15 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, 11:35 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, 4:21 p.m.
Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Created: 21 Dec 2018, 2:02 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 7 164500

Details

Name
ATXN7_CAG
Chromosome
3
GRCh37 Coordinates
63898362-63898391
GRCh38 Coordinates
63912686-63912715
Repeated Sequence
CAG
Normal Number of Repeats: < or =
34
Pathogenic Number of Repeats: = or >
36
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 7 164500
Tags
STR
OMIM
607640
Clinvar variants
Variants in ATXN7
Penetrance
None

History Filter Activity

22 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: atxn7_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: atxn7_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: ATXN7_CAG was added STR: ATXN7_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: ATXN7_CAG. Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500 Review for STR: ATXN7_CAG was set to GREEN