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Fetal anomalies

Gene: AR

Green List (high evidence)

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

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

DSD in individuals with 46, XY karyotype
Created: 2 Mar 2022, 11:26 p.m. | Last Modified: 2 Mar 2022, 11:26 p.m.
Panel Version: 0.4682

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

Phenotypes
Androgen insensitivity, MIM# 300068; Androgen insensitivity syndrome, MONDO:0019154

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DSD.
Created: 29 Jan 2020, 1:30 a.m. | Last Modified: 8 Nov 2021, 3:12 a.m.
Panel Version: 0.160

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

Phenotypes
Androgen insensitivity, MIM# 300068

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Androgen insensitivity, MIM# 300068
  • Androgen insensitivity syndrome, MONDO:0019154
OMIM
313700
Clinvar variants
Variants in AR
Penetrance
None
Panels with this gene

History Filter Activity

2 Mar 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: AR were changed from Androgen insensitivity, MIM# 300068 to Androgen insensitivity, MIM# 300068; Androgen insensitivity syndrome, MONDO:0019154

8 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AR were changed from SPINAL AND BULBAR MUSCULAR ATROPHY; ANDROGEN INSENSITIVITY SYNDROME to Androgen insensitivity, MIM# 300068

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AR was added gene: AR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AR were set to SPINAL AND BULBAR MUSCULAR ATROPHY; ANDROGEN INSENSITIVITY SYNDROME