Disorders of sex development
Gene: AR
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.
Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Numerous variants reported and eligibility statement prior genetic testingCreated: 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},176807Created: 13 Sep 2016, 7:21 a.m.
Complete or partial androgen insensitivity syndromeCreated: 4 Feb 2016, 12:08 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes from UKGTN and OMIM. Mode of inheritance sourced from OMIM (X-linked recessive).Created: 11 Jan 2016, 10:23 a.m.
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
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
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for AR were set to Gender Assignment Gene Panel UKGTN; Androgen insensitivity,300068; Androgen insensitivity,partial,with/without breast cancer,312300; Hypospadias 1,X-linked,300633
Phenotypes for gene AR were set to Gender Assignment Gene Panel UKGTN; Androgen insensitivity,300068; Androgen insensitivity,partial,with/without breast cancer,312300; Hypospadias 1,X-linked,300633; Spinal and bulbar muscular atrophy of Kennedy,313200; {Prostate cancer,susceptibility to},176807
AR was added to Disorders of sex developmentpanel. Sources: Eligibility statement prior genetic testing,UKGTN,Radboud University Medical Center, Nijmegen
ARAll sources for gene: AR were removed
AR was added to Disorders of sex developmentpanel. Source: UKGTN
AR was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
AR was added to Disorders of sex developmentpanel. Source: Other
AR was added to Disorders of sex developmentpanel. Sources: UKGTN,Eligibility statement prior genetic testing,Other
AR was created by ellenmcdonagh