Amyotrophic lateral sclerosis/motor neuron disease
STR: AR_CAGGRCh37 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, 11:35 a.m. | Last Modified: 15 Mar 2022, 11:35 a.m.
Panel Version: 1.56
Arianna Tucci (Genomics England Curator)
Comment on list classification: changed to green as diagnostic for kennedy diseaseCreated: 5 Jun 2018, 10:50 a.m.
Ellen McDonagh (Genomics England Curator)
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: <
- 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
- Expert list
- Phenotypes
-
- Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
- Tags
- OMIM
- 313700
- Clinvar variants
- Variants in AR
- Penetrance
- None
- Publications
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Str: ar_cag has been classified as Green List (High Evidence).
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)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for STR: AR_CAG were changed from Spinal and bulbar muscular atrophy or Kennedy diseases, OMIM:313200 to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
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 or Kennedy diseases, OMIM:313200
Set publications
Arina Puzriakova (Genomics England Curator)Publications for STR: AR_CAG were set to 20301508; 2481485
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)
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: ar_cag has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Arianna Tucci (Genomics England Curator)Str: ar_cag has been classified as Red List (Low Evidence).
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
Added Tag
Ellen McDonagh (Genomics England Curator)STR was added to STR: AR_CAG. Panel: Amyotrophic lateral sclerosis/motor neuron disease
Added New Source
Ellen McDonagh (Genomics England Curator)STR: AR_CAG was added to Amyotrophic lateral sclerosis/motor neuron disease panel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)STR: AR_CAG was created by Ellen McDonagh