Amyotrophic lateral sclerosis/motor neuron disease

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

2 reviews

Arianna Tucci (Genomics England Curator)

Comment on list classification: changed to green as diagnostic for kennedy disease
Created: 5 Jun 2018, 10:50 a.m.

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Spinal and bulbar muscular atrophy or Kennedy diseases 313200

Publications

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
  • Expert list
Phenotypes
  • Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Tags
STR
OMIM
313700
Clinvar variants
Variants in AR
Penetrance
None
Publications

History Filter Activity

11 Jun 2019, Gel status: 3

Changed GRCh38, Set mode of inheritance, Status Update

Louise Daugherty (Genomics England Curator)

GRCh38 position for AR_CAG was changed from 67545318-67545383 to 67545316-67545383. 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) Rating Changed from Green List (high evidence) to Green List (high evidence)

5 Jun 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).

5 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

Str: ar_cag has been classified as Red List (Low Evidence).

31 May 2018, Gel status: 1

Changed GRCh37, Changed GRCh38

Ellen McDonagh (Genomics England Curator)

GRCh37 position for AR_CAG was changed from 66763874-66950461 to 66765160-66765225. Panel: Amyotrophic lateral sclerosis/motor neuron disease GRCh38 position for AR_CAG was changed from 67544032-67730619 to 67545318-67545383. Panel: Amyotrophic lateral sclerosis/motor neuron disease

31 May 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: AR_CAG. Panel: Amyotrophic lateral sclerosis/motor neuron disease

31 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: AR_CAG was added to Amyotrophic lateral sclerosis/motor neuron disease panel. Sources: Expert list

31 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: AR_CAG was created by Ellen McDonagh