TSR2, ribosome maturation factor
OMIM: 300945, Gene2Phenotype
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TSR2 in Haematological malignancies for rare disease
Level 3: Tumour syndromes
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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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TSR2 in Cytopenias and congenital anaemias
Level 3: Anaemias and red cell 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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TSR2 in Haematological malignancies cancer susceptibility
Level 3: Pertinent cancer susceptibility gene panel
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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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TSR2 in Rare anaemia
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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TSR2 in Cytopenia - NOT Fanconi anaemia
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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TSR2 in Clefting
Level 3: Dysmorphic disorders
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review | Not set |
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Phenotypes
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