AR_CAG

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
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