Adult onset neurodegenerative disorder
STR: AR_CAG

Chromosome: X
GRCh37 Position: 66765160-66765225
GRCh38 Position: 67545316-67545383
Repeated Sequence: CAG
Normal Number of Repeats: < 35
Pathogenic Number of Repeats: = or > 38

AR (androgen receptor)
EnsemblGeneIds (GRCh38): ENSG00000169083
EnsemblGeneIds (GRCh37): ENSG00000169083
OMIM: 313700, Gene2Phenotype
AR is in 0 panels

2 reviews

Ivone Leong (Genomics England Curator)

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 11:36 a.m. | Last Modified: 15 Mar 2022, 11:36 a.m.

Panel Version: 2.267

Created: 15 Mar 2022, 11:36 a.m.
Last Modified: 15 Mar 2022, 11:36 a.m.
Panel version: 2.267

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.
Created: 23 Jul 2019, 4:49 p.m. | Last Modified: 23 Jul 2019, 4:49 p.m.

Panel Version: 1.75

Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 24 Apr 2019, 2:04 p.m.

Source PanelApp panels : Amyotrophic lateral sclerosis/motor neuron disease v1.26
Sources: Expert list
Created: 21 Dec 2018, 10:34 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Spinal and bulbar muscular atrophy or Kennedy diseases 313200

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

Created: 21 Dec 2018, 10:34 a.m.

Panel version: 1.75

Details

Name

AR_CAG

Chromosome

GRCh37 Coordinates

66765160-66765225

GRCh38 Coordinates

67545316-67545383

Repeated Sequence

CAG

Normal Number of Repeats: <

Pathogenic Number of Repeats: = or >

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Yorkshire and North East GLH
NHS GMS
London North GLH
Expert Review Green
Expert list

Phenotypes

Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200

Tags

STR

OMIM

313700

Clinvar variants

Variants in AR

Penetrance

None

History Filter Activity

10 Mar 2022, Gel status: 3

Changed Normal Number of Repeats

Arina Puzriakova (Genomics England Curator)

Normal Number of Repeats for AR_CAG was changed from 34 to 35.

11 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for STR: AR_CAG were changed from Spinal and bulbar muscular atrophy or Kennedy diseases 313200 to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200

23 Jul 2019, Gel status: 3