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Hereditary neuropathy NOT PMP22 copy number

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

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: changed rating : It was agreed that the 10 STRs submitted by Alex Rossor should be on the WGS panel only, with the exception of AR, which should be on both- so this STR was upgraded to Green - R78 has no mention of age in the directory, and will mostly be used for non-syndromic adult cases.
Created: 10 Dec 2019, 11:58 a.m. | Last Modified: 10 Dec 2019, 11:58 a.m.
Panel Version: 0.104
New Green STR submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group. This STR has been rated Amber until further discussion with the Neurology Test Group on 21st June 2019- although appropriate to have on this panel, they can be more late-onset, this panel is used for children so needs further discussion with the GLHs and Genomics England Clinical team before upgrading to Green.
Sources: Expert Review
Created: 7 Dec 2019, 12:37 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

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

History Filter Activity

10 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

7 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: ar_cag has been classified as Amber List (Moderate Evidence).

7 Dec 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

STR: AR_CAG was added STR: AR_CAG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review 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 or Kennedy diseases 313200 Review for STR: AR_CAG was set to GREEN