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Hereditary neuropathy
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

4 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: 1.441

Created: 15 Mar 2022, 11:36 a.m.
Last Modified: 15 Mar 2022, 11:36 a.m.
Panel version: 1.441

Zerin Hyder (Genomics England)

Green List (high evidence)

AR_CAG STR green on GMS panel, upgrade for 100K panel.
Created: 7 Jan 2020, 11:28 a.m. | Last Modified: 7 Jan 2020, 11:28 a.m.

Panel Version: 1.366

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

Publications

Created: 7 Jan 2020, 11:28 a.m.
Last Modified: 7 Jan 2020, 11:28 a.m.
Panel version: 1.366

Louise Daugherty (Genomics England Curator)

Comment on list classification: Upgraded STR from Amber to Green due to feedback from Genomics England clinical team, due to re-analysing a few cases for diagnostic discovery there is enough evidence to support a Green rating on this panel.
Created: 10 Jan 2020, 4:56 p.m. | Last Modified: 10 Jan 2020, 4:56 p.m.

Panel Version: 1.368

Comment on publications: added publications to support upgrading from Amber to Green.
Created: 10 Jan 2020, 4:55 p.m. | Last Modified: 10 Jan 2020, 4:55 p.m.

Panel Version: 1.367

Comment on list classification: 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.
Created: 11 Jun 2019, 3:35 p.m.

Created: 11 Jun 2019, 3:35 p.m.

Panel version: 1.301

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Motor axonal neuropathy
Sources: Expert list
Created: 20 May 2019, 6:39 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

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

Created: 20 May 2019, 6:39 p.m.

Panel version: 1.81

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

NHS GMS
Expert Review Green
Expert Review

Phenotypes

Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200

Tags

STR

OMIM

313700

Clinvar variants

Variants in AR

Penetrance

Complete

Publications

History Filter Activity

10 Mar 2022, Gel status: 3

Changed Normal Number of Repeats, Added New Source

Arina Puzriakova (Genomics England Curator)

Normal Number of Repeats for AR_CAG was changed from 34 to 35. Source NHS GMS was added to STR: AR_CAG.

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

10 Jan 2020, Gel status: 3