B-cell receptor associated protein 31
OMIM: 300398, Gene2Phenotype
Panel | Reviews | Mode of inheritance | Details | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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BCAP31 in Early onset dystonia
Level 3: Motor Disorders of the CNS
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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BCAP31 in White matter disorders and cerebral calcification - narrow panel
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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BCAP31 in Inherited white matter disorders
Level 3: White matter 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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BCAP31 in Adult onset neurodegenerative 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) |
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Phenotypes
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BCAP31 in Fetal anomalies
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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BCAP31 in DDG2P
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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BCAP31 in Monogenic hearing loss
Level 3: Non-syndromic hearing loss
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review | Not set |
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Phenotypes
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BCAP31 in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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BCAP31 in Adult onset dystonia, chorea or related movement disorder
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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BCAP31 in Childhood onset dystonia, chorea or related movement disorder
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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BCAP31 in Severe Paediatric Disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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