Differences in sex development
Gene: AR

AR (androgen receptor)
EnsemblGeneIds (GRCh38): ENSG00000169083
EnsemblGeneIds (GRCh37): ENSG00000169083
OMIM: 313700, Gene2Phenotype
AR is in 15 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Apr 2019, 9:46 a.m.

Created: 29 Apr 2019, 9:46 a.m.

Panel version: 1.32

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Numerous variants reported and eligibility statement prior genetic testing
Created: 13 Sep 2016, 7:24 a.m.

Comment on phenotypes: Variants also reported in Spinal and bulbar muscular atrophy of Kennedy,313200 and {Prostate cancer,susceptibility to},176807
Created: 13 Sep 2016, 7:21 a.m.

Created: 13 Sep 2016, 7:21 a.m.

Panel version: 0.175

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

Complete or partial androgen insensitivity syndrome
Created: 4 Feb 2016, 12:08 p.m.

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

Created: 4 Feb 2016, 12:08 p.m.

Panel version: 0.40

Ellen McDonagh (Genomics England Curator)

Phenotypes from UKGTN and OMIM. Mode of inheritance sourced from OMIM (X-linked recessive).
Created: 11 Jan 2016, 10:23 a.m.

Created: 11 Jan 2016, 10:23 a.m.

Panel version: 0.2

Details

Mode of Inheritance

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

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Eligibility statement prior genetic testing
UKGTN

Phenotypes

Androgen insensitivity, OMIM:300068
Androgen insensitivity, partial, with or without breast cancer, OMIM:312300
Hypospadias 1, X-linked, OMIM:300633

OMIM

313700

Clinvar variants

Variants in AR

Penetrance

Complete

Panels with this gene

History Filter Activity

12 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AR were changed from Gender Assignment Gene Panel UKGTN; Androgen insensitivity, OMIM:300068; Androgen insensitivity,partial,with/without breast cancer, OMIM:312300; Hypospadias 1,X-linked, OMIM:300633 to Androgen insensitivity, OMIM:300068; Androgen insensitivity, partial, with or without breast cancer, OMIM:312300; Hypospadias 1, X-linked, OMIM:300633

1 Jul 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AR were changed from Gender Assignment Gene Panel UKGTN; Androgen insensitivity,300068; Androgen insensitivity,partial,with/without breast cancer,312300; Hypospadias 1,X-linked,300633 to Gender Assignment Gene Panel UKGTN; Androgen insensitivity, OMIM:300068; Androgen insensitivity,partial,with/without breast cancer, OMIM:312300; Hypospadias 1,X-linked, OMIM:300633

21 Dec 2016, Gel status: 4