lysosomal associated membrane protein 2
OMIM: 309060, Gene2Phenotype
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LAMP2 in Ketotic hypoglycaemia
Level 3: Specific metabolic abnormalities
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review | Unknown |
Sources
Phenotypes
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LAMP2 in Rhabdomyolysis and metabolic muscle disorders
Level 3: Neuromuscular 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
Phenotypes
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LAMP2 in Vici Syndrome and other autophagy disorders
Level 3: Autophagy 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
Phenotypes
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LAMP2 in Other rare neuromuscular 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
Phenotypes
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LAMP2 in Glycogen storage disease
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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
Phenotypes
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LAMP2 in Lysosomal storage disorder
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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
Phenotypes
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LAMP2 in Progressive cardiac conduction disease
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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
Phenotypes
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LAMP2 in Hypertrophic cardiomyopathy
Level 3: Cardiomyopathy
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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
Phenotypes
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LAMP2 in Dilated Cardiomyopathy and conduction defects
Level 3: Cardiomyopathy
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
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LAMP2 in Arthrogryposis
Level 3: Neuromuscular disorders
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review | Unknown |
Sources
Phenotypes
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LAMP2 in Congenital myopathy
Level 3: Neuromuscular 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
Phenotypes
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LAMP2 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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LAMP2 in Undiagnosed metabolic disorders
Level 3: Specific metabolic abnormalities
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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
Phenotypes
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LAMP2 in Likely inborn error of metabolism - targeted testing not possible
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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
Phenotypes
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LAMP2 in Dilated and arrhythmogenic cardiomyopathy
Level 3: Cardiomyopathy
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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
Phenotypes
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LAMP2 in Fetal anomalies
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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LAMP2 in DDG2P
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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LAMP2 in Hereditary neuropathy
Level 3: Motor and Sensory Disorders of the PNS
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review | Not set |
Sources
Phenotypes
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LAMP2 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
Phenotypes
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LAMP2 in Retinal disorders
Level 3: Posterior segment abnormalities
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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
Phenotypes
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LAMP2 in Paediatric or syndromic cardiomyopathy
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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
Phenotypes
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LAMP2 in Hereditary neuropathy or pain disorder
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review | Not set |
Sources
Phenotypes
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LAMP2 in Childhood onset dystonia, chorea or related movement disorder
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review | Not set |
Sources
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LAMP2 in Severe Paediatric 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
Phenotypes
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LAMP2 in Acute rhabdomyolysis
Level 3: Neuromuscular 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
Phenotypes
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