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Hereditary neuropathy

STR: AR_CAG

Green List (high evidence)

Chromosome: X
GRCh37 Position: 66765160-66765225
GRCh38 Position: 67545316-67545383
Repeated Sequence: CAG
Normal Number of Repeats: < or = 34
Pathogenic Number of Repeats: = or > 38

AR (androgen receptor)
EnsemblGeneIds (GRCh38): ENSG00000169083
EnsemblGeneIds (GRCh37): ENSG00000169083
OMIM: 313700, Gene2Phenotype
AR is in 18 panels

3 reviews

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

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.

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

Details

Name
AR_CAG
Chromosome
X
GRCh37 Coordinates
66765160-66765225
GRCh38 Coordinates
67545316-67545383
Repeated Sequence
CAG
Normal Number of Repeats: < or =
34
Pathogenic Number of Repeats: = or >
38
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
Phenotypes
  • Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Tags
STR
OMIM
313700
Clinvar variants
Variants in AR
Penetrance
Complete
Publications

History Filter Activity

10 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: ar_cag has been classified as Green List (High Evidence).

10 Jan 2020, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for STR: AR_CAG were set to

12 Jun 2019, Gel status: 2

Removed Source, Added New Source

Louise Daugherty (Genomics England Curator)

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

11 Jun 2019, Gel status: 2

Changed GRCh37, Changed GRCh38, Changed Normal Number of Repeats, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

GRCh37 position for AR_CAG was changed from - to 66765160-66765225. GRCh38 position for AR_CAG was changed from 67544622-67730618 to 67545316-67545383. Normal Number of Repeats for AR_CAG was changed from 36 to 34. Mode of inheritance for STR: AR_CAG was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

11 Jun 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: ar_cag has been classified as Amber List (Moderate Evidence).

20 May 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set penetrance

Alexander Rossor (UCL Institute of Neurology)

STR: Kennedy's disease was added STR: Kennedy's disease was added to Hereditary neuropathy. Sources: Expert list Mode of inheritance for STR: Kennedy's disease was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Penetrance for STR: Kennedy's disease were set to Complete Review for STR: Kennedy's disease was set to GREEN STR: Kennedy's disease was marked as current diagnostic