Details for Combination OLI038

VARIANTS BBS1:c.1169T>G, p.Met390Arg in Heterozygous form; CCDC28B:c.430G>T, p.Asp144Tyr in Heterozygous form; BBS1:c.1645G>T, p.Glu549Ter in Heterozygous form
GENE COMBINATION BBS1; CCDC28B
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY Unknown
OMIM IDS 312612; 618195; 612165; 613810; 610282; 613750; 618173; 613758; 613428; 618826; 180100; 312600; 400004; 615434; 613712; 604393; 602594; 608462; 617781; 617304; 600138; 613769; 616544; 610359; 604232; 612712; 600156; 618345; 606068; 618220; 608133; 617123; 609923; 616562; 610599; 614500; 613617; 618613; 615565; 616469; 601718; 615780; 613731; 600132; 180105; 611644; 617433; 613827; 602772; 613767; 601414; 612572; 613809; 617023; 613756; 618697; 300605; 613801; 613862; 609913; 600105; 613711; 607921; 613861; 606874; 613582; 613794; 616394; 600852; 615725; 600155; 180104; 268025; 606875; 614180; 608380; 142623; 613464; 613341; 614494; 611131; 300424; 268000; 613983; 612095; 617460; 268060; 613660; 616188; 600059; 613581; 615233; 615922; 300029; 300155; 613194; 612943; 614181; 613575; 180210
DISEASES Hirschsprung disease; Retinitis pigmentosa
REFERENCES 16327777
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
3323

VAR
manualknowledgemeta
011

FUN
manualmeta
12

FINAL
manualmeta
01
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