1. Genes and Genomic Entities
  2. AR

AR

androgen receptor
OMIM: 313700, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels
Red AR in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.20

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Androgen insensitivity, partial, with or without breast cancer, OMIM:312300
Red AR in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3

review Not set
Sources
  • Literature
Red AR in Inherited ovarian cancer (without breast cancer)

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 4.3
Latest signed off version: v4.0 (22 Mar 2023)

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Androgen insensitivity, OMIM:300068
  • Androgen insensitivity, partial, with or without breast cancer, OMIM:312300
Red AR in Ectodermal dysplasia


Version 3.29
Latest signed off version: v3.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
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
Red AR in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Green AR in Differences in sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.6
Latest signed off version: v4.5 (1 May 2024)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Androgen insensitivity, OMIM:300068
  • Androgen insensitivity, partial, with or without breast cancer, OMIM:312300
  • Hypospadias 1, X-linked, OMIM:300633
Red AR in Adult onset neurodegenerative disorder


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review Other
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Tags
  • nucleotide-repeat-expansion
  • currently-ngs-unreportable
Green AR in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ANDROGEN INSENSITIVITY SYNDROME
Red AR in Amyotrophic lateral sclerosis/motor neuron disease

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.69

review Other
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red AR in Paediatric motor neuronopathies

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 3.7
Latest signed off version: v3.6 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review Other
    Sources
    • Expert Review Red
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Green AR in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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
    • SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200
    • ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068
    Red AR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    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
    Green AR in Severe Paediatric Disorders


    Version 1.184

    		review 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
    Green AR_CAG STR in Distal myopathies

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare 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
    • NHS GMS
    • Expert list
    Phenotypes
    • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
    Tags
    • STR
    Green AR_CAG STR in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.38
    Latest signed off version: v4.37 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare 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
    • NHS GMS
    • Expert list
    Phenotypes
    • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
    Tags
    • STR
    Green AR_CAG STR in Adult onset neurodegenerative disorder


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    		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 of Kennedy, OMIM: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 1.69

    		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
    • NHS GMS
    • Expert list
    Phenotypes
    • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
    Tags
    • STR
    Green AR_CAG STR in Paediatric motor neuronopathies

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.7
    Latest signed off version: v3.6 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare 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
    • NHS GMS
    • Literature
    Phenotypes
    • Spinal and bulbar muscular atrophy of Kennedy, OMIM: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 1.478

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


    Version 4.8
    Latest signed off version: v4.0 (1 May 2024)

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