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Mendeliome

Gene: AR

Green List (high evidence)

AR (androgen receptor)
EnsemblGeneIds (GRCh38): ENSG00000169083
EnsemblGeneIds (GRCh37): ENSG00000169083
OMIM: 313700, Gene2Phenotype
AR is in 8 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association

Hypospadias 1, X-linked, 300633, XLR:
- Increased GGN repeats (glycine) (>23)
- Results in a loss of function (OMIM)

Androgen insensitivity (MIM#300068), XLR:
- Complete (CAIS)
- Germline variants (and sometimes somatic where the WT allele is non-functional)
- PTCs, missense, splicing and larger deletions reported
- Results in complete loss of AR function (OMIM)

Androgen insensitivity, partial, with or without breast cancer (MIM#312300), XLR:
- Partial (PAIS)
- Sometimes due to somatic mosaicism, with residual WT activity
- PTCs, missense, splicing and larger deletions reported
- Results in partial loss of AR function (OMIM)

Spinal and bulbar muscular atrophy of Kennedy (MIM#313200), XLR:
- Increased number of CAG repeats (polyglutamine tract) in exon 1
- Results in a loss of function (OMIM)
- Gottlieb, B. et al. (2012) also suggested it may result in a novel toxic gain of function in motor neurons (PMID: 22334387)
Created: 6 May 2022, 7:20 a.m. | Last Modified: 6 May 2022, 7:20 a.m.
Panel Version: 0.13888

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

Phenotypes
Hypospadias 1, X-linked MIM#30063; Androgen insensitivity MIM#300068; Androgen insensitivity, partial, with or without breast cancer MIM#312300; Spinal and bulbar muscular atrophy of Kennedy MIM#313200

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypospadias 1, X-linked MIM#30063
  • Androgen insensitivity MIM#300068
  • Androgen insensitivity, partial, with or without breast cancer MIM#312300
  • Spinal and bulbar muscular atrophy of Kennedy MIM#313200
OMIM
313700
Clinvar variants
Variants in AR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: ar has been classified as Green List (High Evidence).

6 May 2022, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: AR were changed from to Hypospadias 1, X-linked MIM#30063; Androgen insensitivity MIM#300068; Androgen insensitivity, partial, with or without breast cancer MIM#312300; Spinal and bulbar muscular atrophy of Kennedy MIM#313200

6 May 2022, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: AR were set to

6 May 2022, Gel status: 3

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: AR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AR was added gene: AR was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AR was set to Unknown