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Hereditary neuropathy

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 14 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

New Green STR submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group. This STR has been rated Amber until further discussion with the Neurology Test Group on 21st June 2019- although appropriate to have on this panel, they can be more late-onset, this panel is used for children so needs further discussion with the GLHs and Genomics England Clinical team before upgrading to Green
Sources: Expert list
Created: 11 Jun 2019, 5:43 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 7 164500; Adult onset, cerebellar ataxia, pigmentary macular degeneration, sensory-motor axonal neuropathy

Publications

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
Phenotypes
  • Spinocerebellar ataxia 7 164500
  • Adult onset, cerebellar ataxia, pigmentary macular degeneration, sensory-motor axonal neuropathy
Tags
STR
OMIM
607640
Clinvar variants
Variants in ATXN7
Penetrance
None
Publications

History Filter Activity

12 Jun 2019, Gel status: 2

Removed Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert list was removed from STR: ATXN7_CAG. Source Expert Review was added to STR: ATXN7_CAG.

11 Jun 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).

11 Jun 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

STR: ATXN7_CAG was added STR: ATXN7_CAG was added to Hereditary neuropathy. 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 Publications for STR: ATXN7_CAG were set to 25614072 Phenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500; Adult onset, cerebellar ataxia, pigmentary macular degeneration, sensory-motor axonal neuropathy Review for STR: ATXN7_CAG was set to GREEN