Congenital myopathy

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 18 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, 11:35 a.m. | Last Modified: 15 Mar 2022, 11:35 a.m.
Panel Version: 2.79

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Created: 4 Dec 2018, 2:32 p.m.
Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert list
Created: 4 Dec 2018, 2:32 p.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

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
None

History Filter Activity

10 Mar 2022, 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).

10 Mar 2022, Gel status: 1

Changed Normal Number of Repeats, Added New Source, Status Update

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. Rating Changed from Green List (high evidence) to Red List (low evidence)

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

7 Dec 2018, Gel status: 3

Set Phenotypes

Arianna Tucci (Genomics England Curator)

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

5 Dec 2018, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag STR tag was added to STR: AR_CAG.

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

4 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arianna Tucci (Genomics England Curator)

STR: AR_CAG was added STR: AR_CAG was added to Congenital myopathy. Sources: Expert list 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) STR: AR_CAG was marked as current diagnostic