Details for Combination OLI689

VARIANTS PROKR2:c.802C>T, p.Arg268Cys in Heterozygous form; FGFR1:c.12G>T, p.Trp4Cys in Heterozygous form; CHD7:c.3245C>T, p.Thr1082Ile in Heterozygous form
GENE COMBINATION CHD7; FGFR1; PROKR2
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY European/Caucasian
OMIM IDS 606391; 612225; 615269; 606392; 244200; 606394; 614880; 616511; 613370; 614837; 615270; 612702; 614838; 125850; 614839; 614840; 615266; 600496; 609812; 614841; 613375; 146110; 147950; 610628; 612370; 610508; 616329; 614842; 614858; 308700; 125851
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 26277103
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
11


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