High penetrance and early onset

4 B (EV0134)

Intermediate penetrance or late onset

Heterozygous
2 B (EV0053)

Low penetrance, late onset, or subtle condition

AD or XD Do not use case.
Inheritance High penetrance and early onset
5 B (EV0130)
CASE TREE #3: Homozygous Intermediate penetrance or late onset
or hemizygous 2 B (EV0084)
Observations in
unaffected individuals Low penetrance, late onset, or subtle condition
Do not use case.
Use this table
only if individual is Heterozygous Do not use case.

• Unaffected or High penetrance and early onset

affected with a 4 B (EV0140)
radically inconsistent Heterozygous
phenotype for Intermediate penetrance or late onset
in trans
2 B (EV0141)
the gene with P/LP
AR or XR Low penetrance, late onset, or subtle condition
Inheritance Do not use case.

High penetrance and early onset

4 B (EV0129)
Homozygous Intermediate penetrance or late onset
or hemizygous 2 B (EV0084)

Low penetrance, late onset, or subtle condition

Do not use case.