Distal myopathies

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

1 review

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, 2:29 p.m.

Phenotypes
Spinal and bulbar muscular atrophy or Kennedy diseases 313200

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
None

History Filter Activity

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 Distal myopathies. 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