AR

androgen receptor
OMIM: 313700, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Red AR in Familial breast cancer Level 3: Breast and endocrine Level 2: Tumour syndromes Version 1.28	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 1.4	review	Not set	Sources Literature
Red AR in Inherited ovarian cancer (without breast cancer) Level 2: Inherited cancer Version 4.9 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Androgen insensitivity, OMIM:300068 Androgen insensitivity, partial, with or without breast cancer, OMIM:312300
Red AR in Ectodermal dysplasia Level 2: Dermatology Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	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
Green AR in Differences in sex development Level 2: Endocrinology Version 4.14 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 Radboud University Medical Center, Nijmegen UKGTN 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 Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	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 Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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 1.74	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 2: Neurology Version 3.12 Latest signed off version: v3.9 (30 Apr 2025) 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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) 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_CAG STR in Distal myopathies Level 2: Neurology Version 6.16 Latest signed off version: v6.4 (30 Apr 2025) 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 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) 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 Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	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 1.74	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 2: Neurology Version 3.12 Latest signed off version: v3.9 (30 Apr 2025) 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 1.506	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 Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	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