ID | Phenotype | Gene | Mutation HGVS nomenclature | Zygosity | Type of mutation | Class of transcript-deleterious variants | Notes |
---|---|---|---|---|---|---|---|
17DG0527 | Global developmental delay, hypotonia, epilepsy, postnatal microcephaly, strabismus and choreoathetosis | a | Homozygous | Frameshift indel | Novel gene for this condition | ||
15DG1507 | Epilepsy and global developmental delay | a | Homozygous | Transcript-deleterious variant | c | Novel gene for this condition | |
18DG0320 | Multiple congenital anomalies | a | Homozygous | Missense | Novel gene for this condition | ||
18DG0989 | Neonatal adrenoleukodystrphy | a | Homozygous | Missense | Novel gene for this condition | ||
19DG0509 | Undefined epileptic encephalopathy | a | Homozygous | Nonsense | Novel gene for this condition | ||
18DG0669 | Microcephaly, atrial septal defect, ventricular septal defect | a | Homozygous | Transcript-deleterious variant | a | Novel gene for this condition | |
17DG0738 | Chronic interstitial kidney disease with small kidneys | a | Homozygous | Nonsense | Novel gene for this condition | ||
19DG0230 | Griscelli syndrome | a | Homozygous | Missense | Unpublished | ||
17DG0872 | Hydrocephalus, agenesis of corpus callosum, macrocephaly | a | Homozygous | Transcript-deleterious variant | b | Novel gene for this condition | |
17DG1071 | Cholestasis, progressive familial intrahepatic 3 | ABCB4 | NM_000443.3:c.286+335A>G:p.(Val96Glyfs*11) | Homozygous | Transcript-deleterious variant | c | Unpublished |
16DG0145 | Intellectual disability | ADAT3 | NM_138422.1:c.382G>A:p. (Val128Met) | Homozygous | Missense | Unpublished | |
16DG1223 | Oligohydramios, short long bones and echogenic kidneys | ANKS3 | NM_133450:c.352G>A:p.(Ala118Thr) | Homozygous | Missense | PMID:27417436 | |
18DG0295 | Joubert syndrome | ARL3 | NM_004311.3:c.445C>T:p.(Arg149Cys) | Homozygous | Missense | PMID: 30269812 | |
15DG2104 | Joubert Syndrome | ARMC9 | NM_025139.3:c.51+5G>T:p.?, r.1_51del | Homozygous | Transcript-deleterious variant | c | PMID: 27431290 |
15DG2485 | Asparagine synthetase deficiency | ASNS | NM_133436.2:c.28A>C:p.(Ser10Arg) | Homozygous | Missense | PMID:30214071 | |
15DG0357 | Bardet-Biedl syndrome | BBS1 | NM_024649.4:r. [1232_3423del] | Homozygous | Large deletion | PMID: 27894351 | |
16DG1620 | Osteopetrosis | CLCN7 | NM_001287.5:c.739-18G>A;(p.Met250Argfs*6) | Homozygous | Transcript-deleterious variant | c | PMID: 29620724 |
19DG1262 | Multiple congenital anomalies | COG6 | NM_020751.2:c.695-8T>G | Homozygous | Transcript-deleterious variant | c | Unpublished |
PSMMC0118 | Short stature on growth hormone replacement, subclinical hypothyroidism, grade 1 hydronephrosis (Lt), delayed bone age, IVF pregnancy, first of a twin, delayed development | CREBRF | NM_001168393.2:c.475delT;p.(Ser159Hisfs*57) | Heterozygous | Frameshift indel | PMID: 31130284 | |
17DG0967 | Cholestasis with high GGT and renal failure | DCDC2 | NM_001195610.1:c.223_293del:p.(Arg75Leufs*16) | Homozygous | Frameshift indel | Unpublished | |
17DG0996 | Cholestasis | DCDC2 | NM_001195610.1:c.223_293del:p.(Arg75Leufs*16) | Homozygous | Frameshift indel | Unpublished | |
13DG2237 | Warsaw breakage syndrome | DDX11 | NM_004399.2: c.2426T>G:p. (Val809Gly) | Homozygous | Missense | PMID: 30214071 | |
17DG0022 | Chronic unexplained diarrhea | DGAT1 | NM_012079.5:c.836T>C:p.(Leu279Pro) | Homozygous | Missense | Unpublished | |
16DG0357 | Acromesomelia | DIP2C | NM_014974.2:c.3283C>T:p.(Arg1095Trp) | Homozygous | Missense | PMID:29620724 | |
17DG0756 | Congenital disorder of glycosylation | FUT8 | NM_178155.2:c.943C>T:p.(Arg315*) | Homozygous | Nonsense | PMID: 30237576 | |
16DG0733 | Severe progressive microcephaly, global developmental delay and epilepsy | GPR56 | NM_005682.5:c.1503C>A;p.(Tyr501*) | Homozygous | Nonsense | PMID: 27431290 | |
PSMMC0115 | Unexplained macrocephaly, epilepsy, short stature and developmental delay | KCND1 | NM_004979.6:c.1883G>A:p.(Arg628Lys) | Hemizygous | Missense | Unpublished | |
15DG2234 | Microcephaly, cerebral white matter abnormality and intellectual disability | KCTD3 | NM_016121.3 c.1036_1073del:p.(P346Tfs*4) | Homozygous | Transcript-deleterious variant | d | Unpublished |
13DG2107 | Psychomotor retardation and seizures | KCTD3 | NM_016121.3 c.1036_1073del:p.(P346Tfs*4) | Homozygous | Transcript-deleterious variant | d | PMID:25558065 |
17DG0404 | High GGT neonatal cholestasis/sclerosing cholangitis | KIF12 | NM_138424.1:c.610G>A:p.(Val204Met) | Homozygous | Missense | PMID: 30250217 | |
18DG0966 | Methylmalonic aciduria and homocystinuria | LMBRD1 | NM_018368.4:c.1156C>T:p.(Arg386*) | Homozygous | Nonsense | Unpublished | |
16DG0559 | Joubert syndrome | LRRC34 | NM_001172779:c.199A>T:p.(Lys67*) | Homozygous | Nonsense | In press | |
17DG0731 | Disseminated tuberculosis, hypogammaglobulinemia, nearly all T and B cells are naive | MAP3K14/NIK | NM_003954.3:c.916delT: p.(Cys306Valfs*2) | Homozygous | Frameshift indel | doi.org/10.1016/j.jaci.2018.11.003 | |
15DG2492 | Short stature, global developmental delay, dysmorphism, congenital heart disease , PUJ obstruction and partial agenesis of corpus callosum | MFSD11 | NM_001242532.1:c.143G>C:p.(Gly48Ala) | Homozygous | Missense | PMID: 28940097 | |
16DG0621 | Severe neurodevelopmental disorder | MICU2 | NM_152726.3:c.42G>A:p.(Trp14*) | Homozygous | Nonsense | PMID: 29053821 | |
17DG1094 | Megacystis | MYH11 | NM_022844.2:c.1033+1G>A | Homozygous | Transcript-deleterious variant | a | PMID: 30237576 |
12DG2078 | Klippel-Feil syndrome and myopathy | MYO18B | NM_032608.5:c.6905C A:p.(Ser2302*) | Homozygous | Nonsense | PMID:25748484 | |
18DG0176 | Microcephaly, developmental delay, visual impairment, hyponatremia, failure to thrive, choreoathetoid movement, seizures | NUP214 | NM_005085:c.461:p.(Asp154Gly) | Homozygous | Missense | PMID:30758658 | |
16DG1424 | Diarrhea, failure to thrive, intestinal failure and TPN dependence | PERCC1 | Deletion of regulatory element (chr16:1480850_1483950del) | Homozygous | Transcript-deleterious variant | f | Unpublished |
18DG0670 | Erythrokeratoderma | PERP | NM_022121.4:c.466G>A:p.(Gly156Arg) | Homozygous | Missense | PMID: 31898316 | |
16DG1048 | Peroxisome biogenesis disorder 12A (Zellweger) | PEX19 | NM_001193644.1:c.161C>T:p. (Ser54Leu) | Homozygous | Missense | PMID: 30561787 | |
13DG0810 | Congenital Microcephaly | PPFIBP1 | NM_001198915.1:c.960_961del:p.(Glu320Aspfs*3 | Homozygous | Frameshift indel | PMID: 30214071 | |
16DG0201 | Short stature, brachydactyly, intellectual disability and seizures | PRMT7 | NM_019023.2:c. 190C>T:P. (Gln64*) | Homozygous | Nonsense | PMID: 28940097 | |
15DG2427 | Syndromic cataract | RIC1 | NM_020829.3: c.3794G>C:p.(Arg1265Pro) | Homozygous | Transcript-deleterious variant | b | PMID: 27878435 |
13DG1181 | Primary microcephaly | RTTN | NM_173630.3:c.5746-20A>G:p.1917_1942del | Homozygous | Transcript-deleterious variant | c | PMID: 30214071 |
17DG1005 | Bardet-Biedl syndrome | SCLT1 | NM_144643.2:c.290+2T>C:p.(Lys79Valfs*4) | Homozygous | Transcript-deleterious variant | a | PMID: 30237576 |
16DG0760 | Epilepsy, generalized, with febrile seizures plus, type 1 | SCN1B | NM_001037.3:c.355T>G:p.(Tyr119Asp) | Homozygous | Missense | PMID: 28218389 | |
PSMMC0210 | Hypotonia, global developmental delay, cardiac disease, leukodystophy | SCN3A | NM_001081676.1:c.1485T>G:p.(Ser495Arg) | Heterozygous | Missense | Unpublished | |
18DG0278 | Congenital insensitivity to pain | SCN9A | NM_002977.3:c.2311-14T>G | Homozygous | Transcript-deleterious variant | c | Unpublished |
14DG0045 | Renal failure, morbid obesity, intellectual disability, retinitis pigmentosa (sibling of 14DG0047, see Table S5) | SDCCAG8 | NM_006642.2:c.741-152G>A, p.Arg247Serfs*23; NM_006642.2: r.740_741ins741-202_741-1 | Homozygous | Transcript-deleterious variant | c | In press |
16DG0276 | Tricho-Hepato-Enteric Syndrome | SKIV2L | NM_006929.5:c.3561_3581del; p.(Ser1189_Leu1195del) | Homozygous | Non-frameshift indel | Unpublished | |
16DG0815 | Tricho-Hepato-Enteric Syndrome | SKIV2L | NM_006929.5:c.3561_3581del; p.(Ser1189_Leu1195del) | Homozygous | Non-frameshift indel | Unpublished | |
17DG0977 | Tricho-Hepato-Enteric Syndrome | SKIV2L | NM_006929.4:c.3561_3581del,p.(Ser1189_Leu1195del) | Homozygous | Non-frameshift indel | Unpublished | |
18DG0594 | Pseudovaginal perineoscrotal hypospadias | SRD5A2 | NM_000348:c.682G>A:p.(Ala228Thr) | Homozygous | Missense | Unpublished | |
17DG0821 | Congenital adrenal hyperplasia (CAH) | STAR | NM_000349.2:c.201_202del:p.(Tyr68Glnfs*2) | Homozygous | Frameshift indel | Unpublished | |
18DG0512 | Osteogenesis imperfecta, type XIV | TMEM38B | NM_018112.2:c.455_542del;p.(Gly152Alafs*5) | Homozygous | Frameshift indel | Unpublished | |
16DG0114 | Muscular dystrophy-dystroglycanopathy | TMEM5 | NM_014254.3:c.686A>G:p.(Tyr229Cys) | Homozygous | Missense | Unpublished | |
16DG1117 | Leukodystrophy | TRAK1 | NM_001042646: c.287-2A>G | Homozygous | Transcript-deleterious variant | a | PMID:28940097 |
16DG0659 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | TRAPPC11 | NM_021942.6:c.464C>T:p.(Ser155Leu) | Homozygous | Missense | Unpublished | |
16DG1614 | Global developmental delay and epilepsy | UFC1 | NM_016406.3:c.317C>T:p. (Thr106Ile) | Homozygous | Missense | PMID: 29868776 | |
16DG0018 | Osteogenesis imperfecta | WNT3A | NM_033131.3:c.254G>A:p.(Arg85Gln) | Homozygous | Missense | PMID: 29620724 | |
14DG0613 | Primary microcephaly | YARS | NM_003680.3:c.789C>A:p.(Phe263Leu) | Homozygous | Missense | PMID: 28383543/30214071 | |
15DG2661 | Dysmorphism | ZFAT | NM_020863.3:c.1199G>A:p.(Arg400Gln) | Homozygous | Missense | PMID: 28640246/28940097 |