X-Linked Recessive Transmission Workflow
• | A variant is on the X chromosome |
• | The variant is homozygous (1/1) in an affected female subject |
• | The variant is hemizygous (1) in an affected male subject |
• | The variant is heterozygous (0/1) or not present (0/0) in an unaffected female subject |
• | The variant is not present (0) in an unaffected male subject |
Typical X-Linked Recessive Transmission Logic
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Unaffected
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Unaffected carrier
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Affected
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Variant
X-Linked Recessive Transmission Workflow |
Subject |
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All variants on X |
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All homozygous variants (1/1) for a female subject or all hemizygous (1) variants for a male subject |
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All variants that are homozygous (1/1) or hemizygous (1) in affected subjects |
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All variants that are heterozygous (0/1) or not present in unaffected subjects |
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All variants present in the mother |
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All variants, if the father is unaffected |
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Filtering results: Deleterious variants |