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  3. AR_CAG

Paediatric motor neuronopathies

STR: AR_CAG

Green List (high evidence)
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

3 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: 1.76
Created: 15 Mar 2022, 11:36 a.m.
Last Modified: 15 Mar 2022, 11:36 a.m.
Panel version: 1.76

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this STR has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 12:39 p.m. | Last Modified: 1 Feb 2023, 3:14 p.m.
Panel Version: 2.6
Comment on list classification: There is sufficient evidence to promote this STR to Green at the next GMS panel update.

The AR gene was Green on this panel for Kennedy disease, MIM# 313200 (https://panelapp.genomicsengland.co.uk/panels/79/gene/AR/) however, this has been flagged to be downgraded as the disease mechanism is an expansion of 36 or more CAG trinucleotide repeats in the AR gene and there is a lack of phenotypic relevance for SNVs. STR testing is appropriate route for detecting cases.
Created: 1 Jul 2021, 1:37 p.m. | Last Modified: 11 Nov 2021, 3:20 p.m.
Panel Version: 1.71
Created: 1 Jul 2021, 1:37 p.m.
Last Modified: 1 Feb 2023, 3:14 p.m.
Panel version: 2.3

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

Sources: Literature
Created: 8 Jun 2021, 7:06 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; gynecomastia; muscular weakness

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

Created: 8 Jun 2021, 7:06 a.m.

Panel version: 1.62

Details

Name
AR_CAG
Chromosome
X
GRCh37 Coordinates
66765160-66765225
GRCh38 Coordinates
67545316-67545383
Repeated Sequence
CAG
Normal Number of Repeats: <
35
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
  • Expert Review Green
  • NHS GMS
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

1 Feb 2023, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

1 Feb 2023, Gel status: 2

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating was removed from STR: AR_CAG.

10 Mar 2022, Gel status: 2

Changed GRCh37, Changed Normal Number of Repeats, Added New Source

Arina Puzriakova (Genomics England Curator)

GRCh37 position for AR_CAG was changed from - to 66765160-66765225. Normal Number of Repeats for AR_CAG was changed from 34 to 35. Source NHS GMS was added to STR: AR_CAG.

1 Jul 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for STR: AR_CAG were changed from spinal and bulbar muscular atrophy; gynecomastia; muscular weakness to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200

1 Jul 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for STR: AR_CAG were set to

1 Jul 2021, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag STR tag was added to STR: AR_CAG. Tag Q2_21_rating tag was added to STR: AR_CAG.

1 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

8 Jun 2021, Gel status: 0

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

Dmitrijs Rots (Children's Clinical University Hospital)

STR: AR_CAG was added STR: AR_CAG was added to Paediatric motor neuronopathies. Sources: Literature Mode of inheritance for STR: AR_CAG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for STR: AR_CAG were set to spinal and bulbar muscular atrophy; gynecomastia; muscular weakness Penetrance for STR: AR_CAG were set to Complete Review for STR: AR_CAG was set to GREEN STR: AR_CAG was marked as current diagnostic