phosphorylase kinase regulatory subunit alpha 1
OMIM: 311870, Gene2Phenotype
Panel | Reviews | Mode of inheritance | Details | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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PHKA1 in Rhabdomyolysis and metabolic muscle disorders
Level 3: Neuromuscular disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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PHKA1 in Other rare neuromuscular disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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PHKA1 in Glycogen storage disease
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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PHKA1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Level 3: Neuromuscular disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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PHKA1 in Undiagnosed metabolic disorders
Level 3: Specific metabolic abnormalities
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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PHKA1 in Likely inborn error of metabolism - targeted testing not possible
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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PHKA1 in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
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PHKA1 in Childhood onset dystonia, chorea or related movement disorder
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review | Not set |
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PHKA1 in Severe Paediatric Disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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PHKA1 in Acute rhabdomyolysis
Level 3: Neuromuscular disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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