multiple inositol-polyphosphate phosphatase 1
OMIM: 605391, Gene2Phenotype
Panel | Reviews | Mode of inheritance | Details | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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MINPP1 in Inherited non-medullary thyroid cancer
Level 3: Breast and endocrine
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review | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Phenotypes
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MINPP1 in Ataxia and cerebellar anomalies - narrow panel
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review | BIALLELIC, autosomal or pseudoautosomal |
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Phenotypes
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MINPP1 in Severe microcephaly
Level 3: DNA repair disorders
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review | BIALLELIC, autosomal or pseudoautosomal |
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Phenotypes
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MINPP1 in Early onset or syndromic epilepsy
Level 3: Inherited Epilepsy Syndromes
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review | BIALLELIC, autosomal or pseudoautosomal |
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Phenotypes
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MINPP1 in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental disorders
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review | BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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