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Undiagnosed metabolic disorders

STR: ATXN7_CAG

No list

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Created: 5 Dec 2018, 6:17 p.m.

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Number of normal repeats was changed from 18 to 34.
Created: 6 Jun 2018, 1:27 p.m.
Comments from Arianna Tucci: Marked anticipation. Anticipation in a family may be so dramatic that a child may be diagnosed with what is thought to be a sporadic neurodegenerative disease years before a parent or grandparent with an ATXN7 CAG repeat expansion becomes symptomatic (15349877).
Created: 1 Jun 2018, 9:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 7 164500

Variants in this STR are reported as part of current diagnostic practice

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
Tags
STR
OMIM
607640
Clinvar variants
Variants in ATXN7
Penetrance
None

History Filter Activity

5 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: atxn7_cag has been removed from the panel.

6 Jun 2018, Gel status: 1

Changed Normal Number of Repeats

Ellen McDonagh (Genomics England Curator)

Normal Number of Repeats for ATXN7_CAG was changed from 18 to 34. Panel: Undiagnosed metabolic disorders

1 Jun 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: ATXN7_CAG. Panel: Undiagnosed metabolic disorders

1 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: ATXN7_CAG was added to Undiagnosed metabolic disorders panel. Sources: Expert list

1 Jun 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: ATXN7_CAG was created by Ellen McDonagh