Genomics England

AR_CAG

androgen receptor

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R81 Signed-off version 7.77	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Green in Distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 7.5	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.30	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Green in Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Green in Paediatric motor neuronopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.16	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200