AR

androgen receptor
OMIM: 313700, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Red AR in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.13

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Androgen insensitivity, 300068
  • Spinal and bulbar muscular atrophy of Kennedy, 313200
  • Androgen insensitivity, partial, with or without breast cancer, 312300
  • {Prostate cancer, susceptibility to}, 176807
  • Hypospadias 1, X-linked, 300633

Red AR in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.1

review Not set
Sources
  • Literature

Green AR in Neuromuscular disorders


Version 5.58
Signed off v.5.43 on 4 Mar 2020

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Androgen insensitivity, 300068
  • Spinal and bulbar muscular atrophy of Kennedy, 313200
  • Androgen insensitivity, partial, with or without breast cancer, 312300
  • Hypospadias 1, X-linked, 300633

Red AR in Inherited ovarian cancer (without breast cancer)

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 2.5
Signed off v.2.2 on 4 Mar 2020

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Androgen insensitivity, 300068
  • Spinal and bulbar muscular atrophy of Kennedy, 313200
  • Androgen insensitivity, partial, with or without breast cancer, 312300
  • {Prostate cancer, susceptibility to}, 176807
  • Hypospadias 1, X-linked, 300633

Red AR in Ectodermal dysplasia


Version 1.11
Signed off v.1.10 on 15 Oct 2020

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Androgen insensitivity, 300068
  • Androgen insensitivity, partial, with or without breast cancer, 312300
  • Hypospadias 1, X-linked, 300633
  • Spinal and bulbar muscular atrophy of Kennedy, 313200

Red AR in Autism


Version 0.16

review Not set
Sources
  • Expert Review Red
  • SFARI

Green AR in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 2.11
Signed off v.2.2 on 3 Mar 2020

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Gender Assignment Gene Panel UKGTN
  • Androgen insensitivity,300068
  • Androgen insensitivity,partial,with/without breast cancer,312300
  • Hypospadias 1,X-linked,300633

Red AR in Neurodegenerative disorders - adult onset


Version 2.32
Signed off v.2.31 on 8 Oct 2020

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Spinal and bulbar muscular atrophy of Kennedy, 313200
Tags
  • nucleotide-repeat-expansion
  • currently-ngs-unreportable

Green AR in Fetal anomalies


Version 1.108
Signed off v.1.92 on 21 Aug 2020

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ANDROGEN INSENSITIVITY SYNDROME
  • SPINAL AND BULBAR MUSCULAR ATROPHY

Green AR in Amyotrophic lateral sclerosis/motor neuron disease

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.29

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Spinal and bulbar muscular atrophy of Kennedy, 313200
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion

Green AR in Paediatric motor neuronopathies

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.34
Signed off v.1.30 on 4 Mar 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Androgen insensitivity, 300068Spinal and bulbar muscular atrophy of Kennedy, 313200Androgen insensitivity, partial, with or without breast cancer, 312300{Prostate cancer, susceptibility to}, 176807Hypospadias 1, X-linked, 300633
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable

    Green AR in DDG2P


    Version 2.11
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • ANDROGEN INSENSITIVITY SYNDROME 300068
    • SPINAL AND BULBAR MUSCULAR ATROPHY 313200

    Red AR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.499
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    Phenotypes
    • SPINAL AND BULBAR MUSCULAR ATROPHY

    Green AR in Severe Paediatric Disorders


    Version 1.12

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • 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

    Green AR_CAG STR in Distal myopathies

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20
    Signed off v.1.18 on 2 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal and bulbar muscular atrophy or Kennedy diseases 313200
    Tags
    • STR

    Green AR_CAG STR in Neuromuscular disorders


    Version 5.58
    Signed off v.5.43 on 4 Mar 2020

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal and bulbar muscular atrophy or Kennedy diseases 313200
    Tags
    • STR

    Green AR_CAG STR in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.7
    Signed off v.2.2 on 2 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal and bulbar muscular atrophy or Kennedy diseases 313200
    Tags
    • STR

    Green AR_CAG STR in Neurodegenerative disorders - adult onset


    Version 2.32
    Signed off v.2.31 on 8 Oct 2020

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal and bulbar muscular atrophy or Kennedy diseases 313200
    Tags
    • STR

    Green AR_CAG STR in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.29

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal and bulbar muscular atrophy or Kennedy diseases 313200
    Tags
    • STR

    Green AR_CAG STR in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.377

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinal and bulbar muscular atrophy or Kennedy diseases 313200
    Tags
    • STR

    Green AR_CAG STR in Hereditary neuropathy NOT PMP22 copy number


    Version 1.9
    Signed off v.1.2 on 27 Feb 2020

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinal and bulbar muscular atrophy or Kennedy diseases 313200
    Tags
    • STR