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Severe Paediatric Disorders

Gene: AR

Green List (high evidence)

AR (androgen receptor)
EnsemblGeneIds (GRCh38): ENSG00000169083
EnsemblGeneIds (GRCh37): ENSG00000169083
OMIM: 313700, Gene2Phenotype
AR is in 17 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

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
Panels with this gene