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Table 1 Reported findings of potential medical relevance for the first 20 MedSeq genomes

From: A systematic approach to the reporting of medically relevant findings from whole genome sequencing

Gene Nucleotide Protein Disease Classification Inheritance Report section Filter
SPATA7 c.94 + 2 T > C p.? Leber congenital amaurosis LP AR Carrier Risk LOF
ERCC5 c.3238C > T p.Arg1080X Xeroderma pigmentosum LP AR Carrier Risk LOF
COL7A1 c.7557 + 1G > T p.? Epidermolysis bullosa dystrophica LP AR Carrier Risk LOF
C2 c.841_849 + 19del p.Val281_Arg283del C2 deficiency LP AR Carrier Risk LOF
MYO7A c.5648G > A p.Arg1883Gln Usher syndrome type I LP AR Carrier Risk HGMD
NAGA c.479C > G p.Ser160Cys Alpha-N-acetylgalactosaminidase deficiency LP AR Carrier Risk HGMD
KCNQ1 c.826delT p.Ser276ProfsX13 Jervell and Lange-Nielsen syndrome LP AR Carrier Risk LOF
LAMA2 c.5563-2A > G p.? Congenital muscular dystrophy type IA LP AR Carrier Risk LOF
SP110 c.877A > T p.Lys293X Hepatic veno-occlusive disease with immunodeficiency LP AR Carrier Risk LOF
ARSB c.1450A > G p.Arg484Gly Mucopolysaccharidosis type VI LP AR Carrier Risk HGMD
BEST1 c.602 T > C p.Ile201Thr Autosomal recessive bestrophinopathy LP AR Carrier Risk HGMD
ACOX1 c.1851delT p.Gly618AlafsX24 Peroxisomal acyl-CoA oxidase deficiency LP AR Carrier Risk LOF
LIFR c.2074C > T p.Arg692X Stuve-Wiedemann syndrome LP AR Carrier Risk LOF
PAH c.842 + 5G > A p.? Phenylketonuria LP AR Carrier Risk HGMD, LOF
MMACHC c.271dupA p.Arg91LysfsX14 Methylmalonic aciduria and homocystinuria cblC type P AR Carrier Risk LOF
CFTR c.3846G > A p.Trp1282X Cystic fibrosis P AR Carrier Risk HGMD, LOF
PFKM c.237 + 1G > A p.? Glycogen storage disease 7 P AR Carrier Risk HGMD, LOF
CUBN c.6928_6934del p.Glu2310CysfsX3 Imerslund-Gräsbeck syndrome P AR Carrier Risk LOF
DUOX2 c.3847 + 2 T > C p.? Hypothyroidism P AR Carrier Risk LOF
ABCA4 c.5882G > A p.Gly1961Glu Stargardt disease P AR Carrier Risk HGMD
MPO c.2031-2A > C p.? Myeloperoxidase deficiency P AR Carrier Risk HGMD
SERPINA1 c.1096G > A p.Glu366Lys Chronic obstructive pulmonary disease P AR Carrier Risk HGMD
USH2A c.1214del p. Asn405IlefsX3 Usher syndrome type II P AR Carrier Risk LOF
CLRN1 c.528 T > G p.Tyr176X Usher syndrome type III P AR Carrier Risk HGMD, LOF
CYP1B1 c.171G > A p.Trp57X Primary congenital glaucoma P AR Carrier Risk LOF
NLRP7 c.337_338insG p.Glu113GlyfsX7 Recurrent hydatidiform mole P AR Carrier Risk LOF
BTD c.1330G > C p.Asp444His Biotinidase deficiency P AR Carrier Risk HGMD
SPG7 c.1529C > T p.Ala510Val Spastic paraplegia type 7 P AR Carrier Risk HGMD
PYGL c.25_44dup p.Ser15ArgfsX21 Glycogen storage disease 6 P AR Carrier Risk LOF
WFS1 c.124C > T p.Arg42X Wolfram syndrome P AR Carrier Risk LOF
CYP1B1 c.1103G > A p.Arg368His Primary congenital glaucoma P AR Carrier Risk HGMD
TCIRG1 c.1674-1G > A p.? Infantile malignant osteopetrosis P AR Carrier Risk HGMD, LOF
LTBP4 c.254delT p.Leu85ArgfsX15 Cutis laxa, autosomal recessive, type IC P AR Carrier Risk LOF
RAPSN c.264C > A p.Asn88Lys Congenital myasthenic syndrome P AR Carrier Risk HGMD
TCTN2 c.1877 T > A p.Leu626X Joubert syndrome P AR Carrier Risk LOF
DUOX2 c.2895_2898del p.Phe966SerfsX29 Congenital hypothyroidism P AR Carrier Risk LOF
HFE c.845G > A p.Cys282Tyr Hereditary hemochromatosis P AR Carrier Risk HGMD
GJB2 c.109G > A p.Val37Ile Hearing loss P AR Carrier Risk HGMD
RAB27A c.259G > C p.Ala87Pro Familial hemophagocytic lymphohistiocytosis VUS:FP AR Carrier Risk HGMD
CNGA3 c.1669G > A p.Gly557Arg Achromatopsia VUS:FP AR Carrier Risk HGMD
KCNQ1 c.826delT p.Ser276ProfsX13 Romano Ward syndrome LP AD Monogenic LOF
MYBPC3 c.3742-3759dup p.Gly1248_Cys1253dup Hypertrophic cardiomyopathy LP AD Monogenic HGMD
MYBPC3 c.2827C > T p.Arg943X Hypertrophic cardiomyopathy P AD Monogenic HGMD, LOF
MYBPC3 c.772G > A p.Glu258Lys Hypertrophic cardiomyopathy P AD Monogenic HGMD
LHX4 c.452-2A > C p.? Combined pituitary hormone deficiency P AD Monogenic LOF
PTPN11 c.1403C > T p.Thr468Met LEOPARD syndrome P AD Monogenic HGMD
PPOX c.199delC p.Leu67X Variegate porphyria P AD Monogenic HGMD, LOF
MYH7 c.1987C > T p.Arg663Cys Hypertrophic cardiomyopathy P AD Monogenic HGMD
ARSE c.410G > C p.Gly137Ala Chondrodysplasia punctata VUS:FP XL Monogenic HGMD
  1. Uncertain significance: Favor pathogenic (VUS:FP), Likely pathogenic (LP), Pathogenic (P), autosomal dominant (AD), autosomal recessive (AR), X-linked (XL), loss-of-function (LOF), Human Gene Mutation Database (HGMD).