AD or 1 hetero- or hemizygous variant 1-2 P (EV0169/EV0153)

X-linked + de novo + 2-4 P (EV0206/EV0205)

2 variants, not known to be in cis 1 P (EV0155)

+ de novo + 2-4 P (EV0206/EV0205)
High yield test for this
phenotype (>75%)
Homozygous variant 2 P (EV0153)
AR
2 variants, 1 is pathogenic 1.5 P (EV0154)
+ in trans + 1 P (EV0156)
CASE TREE #1: + de novo + 2-4 P (EV0206/EV0205)

Observations of
variants in AD or 1 hetero- or hemizygous variant 0-3 P (EV0211, EV079-081)
X-linked + de novo + 2-4 P (EV206/205)
affected
individuals Convinced
Insufficient case report.
that this is 1 variant or 2 variants in cis 0 (EV107)
Use this table a hereditary
Variant
case based 2 variants, phase unknown 0-3 P (EV211, EV079-081)
only if individual Frequency: Lower yield
test for this on phenotype AR
Absent or 0-3 P (EV211, EV079-081)
phenotype and pedigree
• Has a “pathogenic 2 in trans (or homozygous variant)
(<75%) analysis + 1 P (EV156)
low-frequency range” + one variant is pathogenic
variant + de novo
2-4 P (EV206/205)

• Is affected with Uncertain

required if this is a
Segregation analysis only 1-4 P (EV0049-51)
phenotype and hereditary case*
genotype for
the gene AD or 1 hetero- or hemizygous variant 0-3 P (EV211, EV079-081)
X-linked + de novo in candidate gene + 1 P (EV0193)
• Does NOT
have an 1 variant or 2 variants Insufficient case report.
in cis or phase unknown 0 (EV107)
alternate cause Candidate
of disease Gene
AR 2 variants in trans
0-3 P (EV211, EV079-081)
(or homozygous variant) + 1 P (EV193)
+ de novo in candidate gene

Variant
Frequency: Segregation analysis only 1-4 P (EV0049-51)
Somewhat
high