Details for Combination OLI602

VARIANTS BNC2:c.1868C>A, p.Pro623His in Heterozygous form; MAMLD1:c.2170C>G, p.Leu724Val in Hemizygous form; ATF3:c.181G>T, p.Ala61Ser in Heterozygous form; CYP1A1:c.1303C>A, p.Arg435Ser in Heterozygous form; EYA1:c.531T>C, p.Ser210= in Heterozygous form; FLNA:c.651C>T, p.Asp217= in Heterozygous form; FRAS1:c.4367T>C, p.Ile1456Thr in Heterozygous form; GLI3:c.1029-6G>A, in Heterozygous form; HOXA13:c.618C>G, p.Phe206Leu in Heterozygous form; IRX5:c.240_242delCTC, p.Ser81del in Heterozygous form; IRX6:c.952T>A, p.Phe318Ile in Heterozygous form; MAML1:c.1157G>T, p.Gly386Val in Heterozygous form; MAML3:c.903C>T, p.Asp301= in Heterozygous form; NRP1:c.2504G>A, p.Gly835Asp in Heterozygous form; PROP1:c.150del, p.Arg53AspfsTer112 in Heterozygous form; PTPN11:c.-89G>A, in Heterozygous form; WDR11:c.3571G>A, p.Gly1191Ser in Heterozygous form
GENE COMBINATION BNC2; NRP1; PROP1; PTPN11; MAML1; MAML3; IRX5; ATF3; FRAS1; IRX6; CYP1A1; HOXA13; WDR11; EYA1; GLI3; FLNA; MAMLD1
OLIGOGENIC EFFECT Unknown
ETHNICITY North African
OMIM IDS N.A.
DISEASES Disorder of sex development
REFERENCES 31555317
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00
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