Details for Combination OLI683

VARIANTS SHH:p.Phe241Val in Heterozygous form; BOC:p.Val861Ile in Heterozygous form; SCUBE2:p.Thr285Met in Heterozygous form; STK36:p.Arg497Gly in Heterozygous form; WNT4:p.Val204Met in Heterozygous form
GENE COMBINATION BOC; SCUBE2; SHH; STK36; WNT4
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 147250; 609637; 236100; 609408; 142945; 605934; 157170; 610828; 142946; 612530; 610829; 614226
DISEASES Holoprosencephaly
REFERENCES 30508070
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
11


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