Variant in trans 4 B (EV0132)

Bi-allelic phenotype is
high penetrance and Phase unknown 1 B (EV0060)
early onset
Variant in cis Do not use case.

Variant in trans 2.5 B (EV0133)

Bi-allelic phenotype is
Alternate cause
Not common intermediate penetrance Phase unknown 1 B (EV0060)
CASE TREE #2: to have
in same gene
or late onset
Variant in cis Do not use case.
multiple genetic
Co-occurence contributors
observations in to disease in a Bi-allelic phenotype is low
affected individuals single case penetrance, late onset, or Do not use case.
AD, X (male) subtle condition
Use this table
only if individual
Alternate cause
1 B (EV0061)
• Is affected with in different gene
required phenotype
and genotype for
Affected
the gene individuals
can have Do not use case.
• Has an alternate multiple genetic
cause of disease contributors
to disease

AR, X (female) Do not use case.