Autosomal Recessive Transmission Workflow
Autosomal recessive transmission reports results merged from two workflows, homozygous and compound heterozygous.
| • | A single gene contains a variant that is on an autosomal chromosome and: |
| • | Homozygous (1/1) in an affected subject |
| • | Heterozygous (0/1) or not present (0/0) in an unaffected subject |
Typical Autosomal Recessive (Homozygous) Transmission Logic
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Unaffected -
Unaffected carrier -
Affected -
Variant
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Homozygous Transmission Workflow |
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Subject |
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All variants on autosomal chromosomes |
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All variants that are homozygous (1/1) in the subject |
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All variants that are homozygous (1/1) 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 and father |
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Filtering results: Deleterious variants |
Include| • | A single gene contains: |
| • | The same gene contains 2 heterozygous (0/1 and 0/1) variants in an affected subject |
| • | Both variants are not present (0/0 and 0/0) in an unaffected subject |
| • | Both variants are on an autosomal chromosome |
Typical Autosomal Recessive Transmission (Compound Heterozygous) Logic
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Unaffected
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Unaffected carrier
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Affected
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Mutation
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Compound Heterozygous Workflow |
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Subject |
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All variants on autosomal chromosomes |
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All compound heterozygous variants (0/1), if at least two heterozygous variants are in the same gene |
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All heterozygous variants (0/1) 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 in a gene if an unaffected subject overlaps remaining variants in that gene |
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Variants not present in the mother or father |
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All variants in a gene if either parent has no overlapping variants with the proband in that gene |
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Variants in a gene if less than two variants remain on that gene |
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Filtering results: Deleterious variants |