Research panel - Severe Paediatric Disorders
Gene: AR

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: AR; Recommended initial gene rating: Green List (high evidence); Phenotypes: Androgen insensitivity, 300068 (3) | Androgen insensitivity, partial, with or without breast cancer, 312300 (3) | Hypospadias 1, X-linked, 300633 (3) | Spinal and bulbar muscular atrophy of Kennedy, 313200 (3); Mode of inheritance: X-linked recessive | X-linked recessive | X-linked recessive | X-linked recessive
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:15 p.m.
Last Modified: 20 Feb 2020, 5:15 p.m.
Panel version: 0.12

Details

Mode of Inheritance

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

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Androgen insensitivity, OMIM:300068
Androgen insensitivity, partial, with or without breast cancer, OMIM:312300
Hypospadias 1, X-linked, OMIM:300633
Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200

OMIM

313700

Clinvar variants

Variants in AR

Penetrance

None

Publications

30847515

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 Spinal and bulbar muscular atrophy of Kennedy, 313200; Androgen insensitivity, 300068; Androgen insensitivity, partial, with or without breast cancer, 312300; Hypospadias 1, X-linked, 300633 to Androgen insensitivity, OMIM:300068; Androgen insensitivity, partial, with or without breast cancer, OMIM:312300; Hypospadias 1, X-linked, OMIM:300633; Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200

21 Feb 2020, Gel status: 3