35
|
ASD/ID panel
|
ADNP
|
NM_015339
|
c.2499del, p.Val834Serfs*80
|
Heterozygous
|
De novo
|
M
|
Pathogenic (Ia)
|
PVS1, PS2, PM2
|
Helsmoortel van der Aa syndrome (615873)
|
36
|
ASD/ID panel
|
ADNP
|
NM_015339
|
c.517C>T, p.Arg173*
|
Heterozygous
|
De novo
|
M
|
Pathogenic (Ia)
|
PVS1, PS2, PM2
|
Helsmoortel van der Aa syndrome (615873)
|
37
|
ASD/ID panel
|
ANKRD11
|
NM_013275
|
c.3542_3543ins23, p.Arg1182Alafs*144
|
Heterozygous
|
De novo
|
M
|
Pathogenic (Ia)
|
PVS1, PS2, PM2
|
KBG syndrome (148050)
|
38
|
ASD/ID panel
|
ARID1B
|
NM_020732.3
|
c.4110G>A, p.His1339Ilefs*77 (b)
|
Heterozygous
|
De novo
|
M
|
Pathogenic (Ia)
|
PVS1, PS2, PS1, PM2
|
Coffin-Siris syndrome 1 (135900)
|
39
|
WES
|
ATRX
|
NM_000489.3
|
c.6740A>C, p.His2247Pro
|
Hemizygous
|
Inherited from heterozygous mother
|
M
|
Likely pathogenic (II)
|
PS1, PM2, PP2, PP3, PP4
|
Mental retardation-hypotonic facies syndrome, X-linked (309580)
|
40
|
WES
|
CACNA1E
|
NM_000721.3
|
c.4688A>G, p.Lys1563Arg
|
Heterozygous
|
De novo
|
M
|
Likely pathogenic (II)
|
PS2, PM2, PP2, PP3
|
Epileptic encephalopathy, early infantile, 69 (618285)
|
41
|
WES
|
CHD2
|
NM_001271.3
|
c.2352+1G>A, p.Lys730Asnfs*4 Skip of exon 18
|
Heterozygous
|
De novo
|
M
|
Pathogenic (Ia)
|
PVS1, PS2, PM2
|
Epileptic encephalopathy, childhood-onset (615369)
|
42
|
WES
|
COG4
|
NM_015386.2
|
c.15G>A, p.Met5Ile
|
Homozygous
|
Inherited from heterozygous parents
|
M
|
Likely pathogenic (V)
|
PM2, PM3, PP2, PP3, PP4
|
Congenital disorder of glycosylation, type IIj (613489)
|
43
|
WES
|
FOXP1
|
NM_032682.5
|
c.1541G>A, p.Arg514His
|
Heterozygous
|
De novo
|
F
|
Likely pathogenic (II)
|
PS2, PM2, PP2, PP3
|
Mental retardation with language impairment and with or without autistic features (613670)
|
44
|
ASD/ID panel
|
FOXP1
|
NM_032682.5
|
c.1541G>A, p.Arg514His
|
Heterozygous
|
De novo
|
F
|
Likely pathogenic (II)
|
PS2, PM2, PP2, PP3
|
Mental retardation with language impairment and with or without autistic features (613670)
|
45
|
WES
|
GNAO1
|
NM_020988.2
|
c.736G>A, p.Glu246Lys
|
Heterozygous
|
De novo
|
F
|
Pathogenic (II)
|
PS2, PS1, PM2, PP2, PP3, PP4
|
Epileptic encephalopathy, early infantile 17 (615473)
|
46c
|
ASD/ID panel
|
GRIA3
|
NM_000828
|
c.504del, p.Glu168Aspfs*21
|
Hemizygous
|
Inherited from mother with somatic mosaicism
|
M
|
Pathogenic (Ib)
|
PVS1, PM2, PP1-M
|
Mental retardation, X-linked 94 (300699)
|
47c
|
ASD/ID panel
|
GRIA3
|
NM_000828
|
c.504del, p.Glu168Aspfs*21
|
Hemizygous
|
Inherited from mother with somatic mosaicism
|
M
|
Pathogenic (Ib)
|
PVS1, PM2, PP1-M
|
Mental retardation, X-linked 94 (300699)
|
48
|
ASD/ID panel
|
GRIA3
|
NM_000828
|
c.1990C>G, p.Pro664Ala
|
Hemizygous
|
Inherited from heterozygous mother
|
M
|
Likely pathogenic (II)
|
PS1, PM2, PP2, PP3, PP4
|
Mental retardation, X-linked 94 (300699)
|
49
|
ASD/ID panel
|
GRIN2B
|
NM_000834.4
|
c.2087G>A, p.Arg696His
|
Heterozygous
|
De novo
|
F
|
Pathogenic (II)
|
PS2, PS1, PM2, PP2, PP3, PP4
|
Mental retardation, autosomal dominant 6 (613970)
|
50
|
ASD/ID panel
|
GRIN2B
|
NM_000834.4
|
c.2084T>C, p.Ile695Thr
|
Heterozygous
|
De novo
|
M
|
Pathogenic (II)
|
PS2, PS1, PM2, PP2, PP3, PP4
|
Mental retardation, autosomal dominant 6 (613970)
|
51
|
ASD/ID panel
|
HUWE1
|
NM_031407.6
|
c.1736A>C, p.Asn579Thr
|
Hemizygous
|
Inherited from heterozygous mother
|
M
|
Likely pathogenic (II)
|
PS1, PM2, PP2, PP3, PP4
|
Mental retardation, X-linked syndromic (300706)
|
52
|
Epilepsy panel
|
IQSEC2
|
NM_001111125.2
|
c.2272C>T, p.Arg758*
|
Heterozygous
|
de novo
|
F
|
Pathogenic (Ia)
|
PVS1, PS2, PM2
|
Mental retardation, X-linked 78 (309530)
|
53
|
WES
|
KCNB1
|
NM_004975.2
|
c.128A>G, p.Glu43Gly
|
Heterozygous
|
De novo
|
M
|
Likely pathogenic (II)
|
PS2, PM2, PP3, PP2
|
Epileptic encephalopathy, early infantile 26 (616056)
|
54
|
ASD/ID panel
|
KDM6A
|
NM_021140.3
|
c.2944G>T, p.Gly982*
|
Heterozygous
|
De novo
|
M
|
Pathogenic (Ia)
|
PVS1, PS2, PM2
|
Kabuki syndrome 2 (300867)
|
55
|
WES
|
LINS1
|
NM_001040616.2
|
c.1921del, p.Glu641Serfs*4
|
Homozygous
|
Inherited from heterozygous parents
|
M
|
Likely pathogenic (V)
|
PM2, PM3, PP2, PP3, PP4
|
Mental retardation, autosomal recessive 27 (614340)
|
56
|
ASD/ID panel
|
MED13L
|
NM_015335.4
|
c.1708_1709del, p.Ser570Phefs*27
|
Heterozygous
|
De novo
|
F
|
Pathogenic (Ia)
|
PVS1, PS2, PM2
|
Mental retardation and distinctive facial features with or without cardiac defects (616789)
|
57
|
ASD/ID panel
|
MYT1L
|
NM_015025.3
|
c.1579G>C, p.Gly527Arg
|
Heterozygous
|
De novo
|
F
|
Pathogenic (II)
|
PS2, PS1, PM2, PP2, PP3, PP4
|
Mental retardation, autosomal dominant 39 (616521)
|
58
|
ASD/ID panel
|
NAA10
|
NM_003491.3
|
c.236G>A, p.Arg79His
|
Heterozygous
|
De novo
|
M
|
Likely pathogenic (II)
|
PS2, PM2, PP2, PP3
|
Ogden syndrome (300855)
|
59
|
WES
|
PHF6
|
NM_032458.2
|
c.385C>T, p.Arg129*
|
Heterozygous
|
De novo
|
F
|
Pathogenic (Ia)
|
PVS1, PS2, PM2
|
Borjeson-Forssman-Lehmann syndrome (301900)
|
60
|
WES, Epilepsy panel
|
RORB
|
NM_006914.3
|
c.640C>T, p.Arg214*
|
Heterozygous
|
De novo
|
F
|
Pathogenic (Ia)
|
PVS1, PS2, PM2
|
Epilepsy, idiopathic generalized, susceptibility to, 15 (618357)
|
61
|
ASD/ID panel
|
SHANK3
|
NM_033517.1
|
c.5021G>A, p.Gly1674Asp
|
Heterozygous
|
Inherited from the affected mother
|
M
|
Likely pathogenic (II)
|
PP1-S, PM2, PP2, PP3, PP4
|
Phelan-McDermid syndrome (606232)
|
62
|
ASD/ID panel
|
SHANK3
|
NM_033517.1
|
c.3679dup, p.(Ala1227Glyfs*69)
|
Heterozygous
|
De novo
|
M
|
Pathogenic (Ia)
|
PVS1, PS2, PM2
|
Phelan-McDermid syndrome (606232)
|
63
|
ASD/ID panel
|
SLC6A1
|
NM_003042
|
c.752T>C, p.Leu251Pro
|
Heterozygous
|
De novo
|
F
|
Likely pathogenic (II)
|
PS2, PM2, PP3, PP2
|
Myoclonic-atonic epilepsy (616421)
|
64
|
Epilepsy panel
|
STXBP1
|
NM_003165.3
|
c.87+1G>T, p.?
|
Heterozygous
|
De novo
|
M
|
Pathogenic (Ia)
|
PVS1, PS2, PM2
|
Epileptic encephalopathy, early infantile, 4 (612164)
|
65
|
ASD/ID panel
|
SZT2
|
NM_015284.3
|
c.1261+1G>A, p.? c.6113A>G, p.Tyr2038Cys
|
Compound heterozygous
|
Inherited from heterozygous parents
|
F
|
Likely pathogenic (V)
|
PVS1, PM2, PM3, PP2, PP3, PP4
|
Epileptic encephalopathy, early infantile 18 (615476)
|
66
|
ASD/ID panel
|
TLK2
|
NM_006852.3
|
c.1015C>T, p.Arg339Trp
|
Heterozygous
|
De novo
|
M
|
Pathogenic (II)
|
PS2, PS1, PM2, PP2, PP3, PP4
|
Mental retardation, autosomal dominant 57 (618050)
|
67
|
WES
|
TUSC3
|
NM_006765.3
|
c.787_788insC, p.Asn263Thrfs*
|
homozygous
|
Inherited from heterozygous parents
|
M
|
Pathogenic (Ib)
|
PVS1, PM2, PM3, PP2
|
Mental retardation, autosomal recessive 7 (611093)
|