1 |
M |
7 y |
ID, ASD |
arr[hg19] 9q34.3(139,486,767-140,141,288)x3 |
654.521 |
THRB, GLB1, TRAF2, MAN1B1, GRIN1
|
Pathogenic |
arr[hg19] 3p24.2(24,448,650-24,453,383)x1 |
4.733 |
THRB
|
2 |
M |
2 y |
DD, dystonia, family history of hereditary spastic paraplegia |
arr[hg19] 1q41q42.11(223,903,817-224,304,043)x3 |
400.226 |
CAPN2
|
Pathogenic |
arr[hg19] Xp21.1(32,535,197-32,544,026)x0 |
8.829 |
DMD
|
3 |
M |
8 y |
ID |
arr[hg19] 2q24.3(166,914,464-166,920,459)x1 |
6 |
SCN1A
|
Pathogenic |
arr[hg19] 3p26.3(282,750-283,756)x1 |
1 |
CHL1
|
4 |
M |
9 y |
ID |
arr[hg19] 2q24.3(166,914,464-166,920,459)x1 |
6 |
SCN1A
|
Pathogenic |
arr[hg19] Xp11.4(41,420,369-41,436,593)x0 |
16 |
CASK
|
5 |
M |
4 y |
DD |
arr[hg19] Xq22.2(103,022,505-103,032,637)x0 |
10 |
PLP1
|
Pathogenic |
6 |
M |
9 y |
ID |
arr[hg19] 8q23.3(116,594,180-116,597,777)x1 |
3.597 |
TPRS1
|
VUS |
arr[hg19] 19p13.3(1,377,665-1,712,859)x3 |
335.194 |
NDUFS7
|
arr[hg19] 20q13.33(61,914,225-62,223,211)x3 |
308.986 |
KCNQ2
|
7 |
M |
5 y |
DD, dystonia |
arr[hg19] 5q14.3q21.3(89,128,834-105,955,784)x1 |
16,826.95 |
5q14.3 deletion syndrome |
Pathogenic |
arr[hg19] Xp21.1(32,685,839-32,696,594)x0 |
10.755 |
DMD
|
8 |
M |
17 y |
Mild ID |
arr[hg19] 2q21.2q21.3(134,274,063-135,144,454)x3 |
870.391 |
None |
Benign |
arr[hg19] 7q11.21(64,612,879-65,162,169)x1 |
549.29 |
None |
9 |
M |
7 y |
ID, convulsion |
arr[hg19] 9q21.13q21.31 (74804031-81810541)x1 |
7,006.51 |
TRPM6
|
Pathogenic |
10 |
M |
16 y |
DD, MCA |
arr[hg19] Xq28(152,927,530-153,002,877)x2 |
75.347 |
SLC6A8
|
Pathogenic |
11 |
M |
17 y |
ID, ASD |
arr[hg19]16p11.2(29,567,295-30,177,916x1 |
611 |
16p11.2 deletion syndrome |
Pathogenic |
12 |
M |
10 mo |
DD, hypotonia, failure to thrive |
arr[hg19]16p11.2(29,657,192-30,192,347)x3 |
598 |
16p11.2 duplication syndrome |
Pathogenic |
13 |
M |
NB |
MCA |
Normal (balanced de novo translocation later found) |
- |
N/A |
Benign |
14 |
F |
5 y |
MCA |
arr[hg19] 1p36.33p36.23(849,466-7,637,060)x1 |
6,788 |
1p36 deletion syndrome |
Pathogenic |
15 |
M |
6 y |
ID, ASD |
arr[hg19] 2q14.2(121,565,880-121,569,723)x1 |
3.843 |
GLI2
|
VUS |
16 |
F |
5 y |
DD, mitochondrial disorder |
arr[hg19] 7q36.2(153,965,792-153,987,424)x1 |
21.632 |
DPP6
|
Pathogenic |
arr[hg19] 9q34.3(139,015,355-139,425,340)x3 |
409.985 |
NOTCH1
|
arr[hg19] 12p13.33(1,953,989-2,306,966)x3 |
352.977 |
CACNA2D4
|
17 |
M |
7 y |
ID, multiple neuromuscular problems |
arr[hg19] 9q34.3(139,870,881-140,169,934)x3 |
299.053 |
MAN1B1
|
Pathogenic |
arr[hg19] 16p13.3(549,826-1,045,161)x3 |
495.335 |
CCDC78
|
arr[hg19] Xq28(153,167,262-153,189,112)x2 |
21.85 |
AVPR2
|
arr[hg19] Xp21.1(31,536,869-31,542,339)x0 |
5.47 |
DMD
|
18 |
F |
15 y |
ID, seizure, brain anomaly |
arr[hg19] 16p11.2(32,046,521-33,814,547)x1 |
1,768.026 |
16p11.1 deletion syndrome |
Pathogenic |
19 |
F |
15 y |
ID |
arr[hg19] Xp21.2(29,368,422-29,383,438)x4 |
15.016 |
IL1RAPL1
|
Pathogenic |
20 |
M |
3 y |
DD, cryptorchidism, dystonia |
arr[hg19] 15q11.2(24,340,678-24,829,846)x3 |
489.168 |
PWRN1
|
Pathogenic |
21 |
M |
6 y |
ID, dystonia, long limbs |
arr[hg19] 15q21.1q21.3(46,413,347-53,769,553)x1 |
7356.206 |
FBN1
|
Pathogenic |
22 |
M |
3 y |
DD, dystonia |
arr[hg19] 16p13.3(571,141-910,738)x3 |
339.597 |
CCDC78
|
Pathogenic |
23 |
M |
14 y |
DD, dystonia |
arr[hg19] 16p13.3(1,002,394-1,007,394)x4 |
5.0 |
LMF1
|
Pathogenic |
arr[hg19] Xp21.1(31,536,869-31,536,878)x0 |
0.009 |
DMD
|
24 |
F |
31 y |
Mild ID |
arr[hg19] 15q26.3(99,183,519-99,204,934)x4 |
21.415 |
IGF1R
|
VUS |
25 |
M |
6 y |
ID |
arr[hg19] 22q11.21(18,916,842-19,024,659)x4 |
107.817 |
PRODH (22q11.2 duplication syndrome) |
Pathogenic |
26 |
F |
27 y |
ID |
arr[hg19] 9p24.3q21.11(208,454-69,977,404)x3 |
69,768.95 |
9p duplication syndrome |
Pathogenic |
arr[hg19] 19p13.3(669,306-1,725,991)x3 |
1,056.69 |
19p duplication syndrome |
27 |
F |
10 y |
DD, epilepsy |
arr[hg19] Xq28(152,765,599-153,008,454)x3 |
242.855 |
ATP2B3, SLC6A8
|
Pathogenic |
28 |
M |
38 y |
History of DD, hypotonia |
arr[hg19] 7p21.2(16,438,181-16,443,839)x4 |
5.658 |
ISPD
|
VUS |
29 |
F |
7 y |
History of DD, polydactyly |
arr[hg19] 7q35(146,193,991-146,199,530)x1 |
5.539 |
CNTNAP2
|
VUS |
arr[hg19] Xp11.22(53,225,023-53,240,693)x3 |
15.67 |
KDM5C
|
30 |
M |
5 y |
DD, dystonia |
arr[hg19] 9q34.3(139,381,821-140,086,032)x3 |
704.211 |
MAN1B1,GRIN1
|
Pathogenic |
arr[hg19] Xp21.1(31,536,869-31,542,335)x0 |
5.466 |
DMD
|
31 |
M |
18 y |
ID |
arr[hg19] 9q34.3(139,897,180-140,086,032)x3 |
188.852 |
MAN1B1,GRIN1
|
Pathogenic |
32 |
F |
11 y |
Mild ID, ASD |
arr[hg19] 16p13.3(536,666-1,449,862)x3 |
913.196 |
STUB1
|
VUS |
33 |
M |
4 y |
DD, iron-deficiency anemia |
arr[hg19] 7p15.2(27,223,591-27,224,687)x1 |
1.096 |
HOXA11
|
VUS |
arr[hg19] 16p13.3(1,129,251-1,517,728)x3 |
388.477 |
GNPTG
|
34 |
F |
16 y |
ID, low bone density |
arr[hg19] 1q21.3(151,331,913-151,409,973)x3 |
78.06 |
POGZ
|
VUS |
35 |
M |
15 y |
ID, low bone density |
arr[hg19] 1q21.3(151,331,913-151,409,973)x3 |
78.06 |
POGZ
|
VUS |
36 |
F |
5 y |
DD, hypotonia, suspected Haddad syndrome |
arr[hg19] 19p13.2p13.12(12,697,352-14,926,569)x1 |
2,229.22 |
19p13.2 deletion syndrome |
Pathogenic |
37 |
M |
13 y |
ID |
arr[hg19] Xp11.22(53,428,070-53,477,879)x2 |
49.809 |
SMC1A
|
Pathogenic |
38 |
F |
20 y |
History of DD, convulsion |
arr[hg19] Xp11.22(53,428,070-53,477,882)x3 |
49.812 |
SMC1A, HSD17B10
|
Pathogenic |
39 |
M |
10 y |
ID, ASD |
arr[hg19] 5q31.2q31.3(137,500,664-140,552,558) hmz |
3,051.894 |
PURA
|
VUS |
40 |
M |
6 y |
ID |
arr[hg19] Xq28(152,927,530-152,993,325)x2 |
65.795 |
ABCD1
|
VUS |
41 |
M |
4 y |
DD |
arr[hg19] 1p36.33(2,226,599-2,242,417)x4 |
15.818 |
SKI
|
Pathogenic |
42 |
F |
21 y |
ID |
arr[hg19] Xp22.32(5,844,864-5,872,572)x1 |
27.70 |
NLGN4X
|
VUS |