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Unpublished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Unpublished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Unpublished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Unpublished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
|