[Variant][Details] Patients list

General information

Description

This panel displays a list of patients, grouped by the established diagnosis, who have the variant.

Table

Inheritance

The values of inheritance can be:

• De novo constitutive
• De novo mosaic
• Paternally inherited, constitutive in father
• Paternally inherited, mosaic in father
• Maternally inherited, constitutive in mother
• Maternally inherited, mosaic in mother
• Biparental
• Imbalance arising from a balanced parental rearrangement
• Inherited mosaic
• Unknown

Zygosity

The values of zygosity can be:

• Heterozygous
• Homozygous
• Hemizygous
• Mitochondrial heteroplasmy
• Mitochondrial homoplasmy
• Unknown

Co-occurences

The values of co-occurences can be:

• Yes
• No

Collection method

The values of collection method can be:

• Case-control
• Clinical testing
• Reference population
• Research
• Other
• Unknown

Detection method

The values of detection method can be:

• Sequencing
• Fragment analysis
• Southern Blot
• conventional cytogenetics
• FISH (IFISH or MFISH)
• Array (Oligo or SNP)
• qRTPCR
• MLPA
• NGSbased CNV detection (Panel/WES/WGS)
• other

Suggested pathogenicity:

The values of suggested pathogenicity can be:

• Likely pathogenic
• Pathogenic
• Likely benign
• Benign
• Variant of uncertain significance

Visual output