1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. AR_CAG

Congenital muscular dystrophy and 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 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, 11:35 a.m. | Last Modified: 15 Mar 2022, 11:35 a.m.
Panel Version: 2.79
Created: 15 Mar 2022, 11:35 a.m.
Last Modified: 15 Mar 2022, 11:35 a.m.
Copied from panel: Congenital myopathy v3.121

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

Created: 4 Dec 2018, 2:32 p.m.

Copied from panel: Congenital myopathy v3.121

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

7 Feb 2023, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

STR: AR_CAG was added STR: AR_CAG was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review Green STR tags were added to STR: AR_CAG. 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 of Kennedy, OMIM:313200