Details for Combination OLI330

VARIANTS SOD1:p.Ala90Val in Heterozygous form; BICD2:c.1179T>A, p.Asn393Lys in Heterozygous form; CACNA1H:c.2759C>T, p.Thr920Met in Heterozygous form; UNC13A:c.892C>T, p.Arg298Trp in Heterozygous form; ADA2:c.14G>C, p.Gly5Ala in Heterozygous form; APTX:c.431C>A, p.Ser144Tyr in Heterozygous form; CHRNE:c.472_473insGGGGTCTGCA, p.Asp158GlyfsTer47 in Heterozygous form; CDH23:c.3301A>G, p.Ile1101Val in Heterozygous form; LAMB2:c.1886C>T, p.Pro629Leu in Heterozygous form; MYH11:c.5890G>C, p.Glu1964Gln in Heterozygous form; NME8:c.169A>G, p.Asn57Asp in Heterozygous form; PRRT2:c.640G>C, p.Ala214Pro in Heterozygous form; QARS1:c.2261A>G, p.Asp754Gly in Heterozygous form; SLC26A10:c.1247T>G, p.Leu416Arg in Heterozygous form; SLC26A10:c.1206G>A, p.Trp402Ter in Heterozygous form
GENE COMBINATION ADA2; APTX; BICD2; CACNA1H; CDH23; CHRNE; LAMB2; MYH11; NME8; PRRT2; QARS1; SLC26A10; SOD1; UNC13A
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 615515; 608627; 300857; 205250; 611895; 612069; 617839; 616208; 613435; 608030; 612577; 614696; 614808; 105400; 616437; 613954; 606070; 608031; 617892; 615426; 606640
DISEASES Amyotrophic lateral sclerosis
REFERENCES 31086828
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00
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