Available inheritance options - JohannKaspar/AutoCaSc GitHub Wiki

Inheritance options

• De novo: De novo variants are identified only in the index and have not been inherited from the parents.
• Inherited dominant: In case of an inherited dominant variant, the variant of interested has been inherited by an equally affected parent.
• Homozygous recessive: Variant is identified in homozygous state in the index and in heterozygous state in both healthy parents.
• X-linked: X-linked variants are being inherited from the heterozygous carrier mother and cause a phenotype in a male descendant as he has only one affected allele and no healthy second allele to compensate. De novo variants on the X-chromosome, for both female and male index individuals, are account for in the de novo inheritance option.
• Compound heterozygous: Compound heterozygous variants are two different variants in the same gene but on different alleles. Each is inherited from only one heterozygous carrier parent.
• Unknown: The "unknown" option can be used if information on the parents and thus on segregation is missing.