WD1
|
1p36.33 del, 8p23.3p22 gain
|
0.715, 13.753
|
Unbalanced translocation
|
No
|
HMZ c.11754G>A (p.W3918*) pathogenic variant in USH2A
|
Usher syndrome 2A [MIM:276901]
|
AR
|
WD2
|
1q21.1q21.2 del, inherited
|
0.847
|
1q21.1 deletion syndrome [MIM:612474]
|
Yes
|
HTZ c.1396_1399dup (p.Y467fs) pathogenic variant in ZFPM2
|
Tetralogy of Fallot [MIM: 187500]; diaphragmatic hernia 3 [MIM:610187]
|
AD
|
WC2*, #,3*, #
|
1q21.1q21.2 del
|
1.207
|
1q21.1 deletion syndrome [MIM:612474]
|
No
|
HTZ c.283C>T (p.R95*) pathogenic variant in CTNNB1, dn
|
Mental retardation, autosomal dominant 19 [MIM:615075]
|
AD
|
WD3
|
1q24.2q25.3 gain
|
10.944
|
Large gain in 1q
|
Yes
|
HTZ c.182A>G (p.H61R) likely pathogenic variant in PTEN, dn
|
Cowden disease [MIM:158350]
|
AD
|
WD4
|
2q21.1 del
|
0.447
|
2q21.1 deletion including ARHGEF4 and GPR148 [PMID:22543972]
|
No
|
HTZ c.1615delG (p.E539fs) pathogenic variant in PTCH1
|
Basal cell nevus syndrome [MIM:109400]
|
AD
|
WD5
|
2q36.3 del
|
0.004
|
Early language delay and cerebral white matter hyperintensities [PMID:23810381]
|
Yes
|
HTZ c.2155+2T>C pathogenic variant in CASK
|
Mental retardation and microcephaly with pontine and cerebellar hypoplasia [MIM:300749]
|
X-linked
|
WD6
|
3pter del
|
5.15
|
Distal 3p deletion syndrome [MIM:613792]
|
No
|
HMZ c.836C>T (p.A279V) VUS in SUMF1
|
Multiple sulfatase deficiency [MIM:272200]
|
AR
|
WD7
|
3q21.2q21.3 del
|
2.053
|
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies [MIM:617260]
|
No
|
HTZ c.706C>T (p.R236*) pathogenic variant in ACAN
|
Spondyloepiphyseal dysplasia type Kimberley [MIM:608361]
|
AD
|
WD20
|
4p16.1 gain, mosaic, dn
|
1.112
|
4p16.1 duplication [PMID: 15378535]
|
Yes
|
HMZ c.882_883del (p.Q295fs) pathogenic variant in WDR45, dn
|
Brain iron accumulation 5 [MIM:300894]
|
X-linked
|
WD8**
|
10q24.31q24.32 gain, dn
|
0.736
|
Split hand-split foot malformation 3 [MIM:246560]
|
No
|
HMZ c.2209G>C (p.G737R) pathogenic variant in POLG
|
Leigh syndrome [MIM:256000]
|
AD
|
WD9
|
15q13.2q13.3 del BP4-5
|
1.477
|
15q13.3 microdeletion syndrome [MIM:612001]
|
No
|
HTZ c.503G>A (p.R168H) pathogenic variant in TPM3, dn
|
Nemaline myopathy 1 [MIM:609284]; Cap myopathy 1 [MIM:609284]
|
AD
|
WD22
|
15q15.3 HMZ del
|
0.049
|
Deafness, autosomal recessive 16 [MIM:603720]
|
No
|
HMZ c.73G>T (p.E25*) pathogenic variant in EPCAM
|
Diarrhea 5, with tufting enteropathy, congenital [MIM:613217]
|
AR
|
WD13*
|
16p13.11 del, dn
|
1.166
|
16p13.11 microdeletion syndrome. [PMID:24105370]
|
Yes
|
HTZ c.5351T>C (p.V1784A) likely pathogenic variant in SCN1A, dn
|
Epileptic encephalopathy, early infantile, 6 [MIM:607208]
|
AD
|
WD23
|
16p13.11 del
|
1.166
|
16p13.11 microdeletion syndrome. [PMID:24105370]
|
Yes
|
HTZ c.2350_2351dupTG (p.W784fs) pathogenic variant in NF1
|
Neurofibromatosis-Noonan syndrome [MIM:601321]
|
AD
|
WD14
|
16p13.11 del, inherited
|
0.770
|
16p13.11 microdeletion syndrome. [PMID:24105370]
|
Yes
|
HMZ c.872C>T (p.S291F) VUS in NDE1
|
Lissencephaly type 4 [MIM:614019]
|
AR
|
WD15
|
16p13.11 gain
|
1.314
|
16p13.11 microduplication [PMID:21150890]
|
Yes
|
HMZ c.1156C>T (p.R386W) pathogenic variant in FDXR
|
Auditory neuropathy and optic atrophy [MIM:617717]
|
AR
|
WD15
|
16p13.11 gain
|
1.314
|
16p13.11 microduplication [PMID:21150890]
|
Yes
|
HTZ c.8045delT (p.L2682fs) pathogenic variant in KMT2A
|
Wiedemann-Steiner syndrome [MIM:605130]
|
AD
|
WD30
|
16p13.11 gain, inherited
|
1.165
|
16p13.11 microduplication [PMID:21150890]
|
Yes
|
HTZ c.1215delA (p.P405fs) pathogenic variant and c.1051A>C (p.T351P) VUS in ROBO3
|
Familial horizontal gaze palsy with progressive scoliosis [MIM:607313]
|
AR
|
WD21
|
16p13.11 gain, inherited
|
1.166
|
16p13.11 microduplication [PMID:21150890]
|
No
|
HTZ c.356T>C (p.L119P) pathogenic variant in KRT13, dn
|
White sponge nevus 2 [MIM:615785]
|
AD
|
WD12
|
16p12.2 del
|
0.387
|
16p12.2 microdeletion (EEF2K) [PMID:27848943]
|
Yes
|
HTZ c.6619_6621delGAG (p.E2207del) pathogenic variant in SPTAN1, dn
|
Epileptic encephalopathy, early infantile, 5 [MIM:613477]
|
AD
|
WD35
|
16p11.2 loss, inherited
|
0.377
|
16p11.2 deletion syndrome, 220kb [MIM:613444]
|
Yes
|
HTZ c.3280delG (p.E1094fs) in KAT6B, dn
|
Ohdo syndrome, SBBYS variant [MIM:603736]
|
AD
|
WD33
|
16p11.2 gain
|
0.521
|
16p11.2 duplication syndrome [MIM:614671]
|
Yes
|
HTZ c.1618dupC (p.Q540fs) pathogenic variant in TCF20, dn
|
Autism, intellectual disability, and postnatal overgrowth [PMID:27436265]
|
AD
|
WD10*
|
16p11.2 del, inherited
|
0.526
|
16p11.2 deletion syndrome, 593Kb [MIM:611913]
|
Yes
|
HTZ c.3505C>T (p.R1169*) likely pathogenic variant in KAT6A; inherited from similarly affected father
|
Mental retardation, autosomal dominant 32 [MIM:616268]
|
AD
|
WD11
|
16p11.2 del
|
0.526
|
16p11.2 deletion syndrome, 593Kb [MIM: 611913]
|
No
|
HTZ c.649dup (p.R217fs) pathogenic variant in PRRT2
|
Familial paroxysmal kinesigenic dyskinesia [MIM:602066]
|
AD
|
WD16
|
17p12 del, dn
|
1.448
|
HNPP [MIM:162500]
|
Yes
|
HTZ c.1264C>T (p.R422*) pathogenic variant in DEPDC5, dn
|
Epilepsy, familial focal, with variable foci [MIM:604364]
|
AD
|
WD24
|
17p12 del
|
1.294
|
HNPP [MIM:162500]
|
Yes
|
HTZ c.607G>A (p.G203R) likely pathogenic variant in GNAO1, dn
|
Epileptic encephalopathy, early infantile, 17 [MIM:615473]
|
AD
|
WD17*
|
17q11.2 gain
|
1.072
|
17q11.2 microduplication syndrome [MIM:613675]
|
No
|
HTZ c.1286G>A (p.W429*) pathogenic variant in SOX11
|
Mental retardation, autosomal dominant 27 [MIM:615866]
|
AD
|
WD25
|
17q12 del
|
1.776
|
Renal cysts and diabetes syndrome [MIM:137920]
|
No
|
Compound HTZ c.2099C>T (p.P700L) and c.2734C>T (p.R912W) VUS in KIF1C
|
Spastic ataxia 2, autosomal recessive [MIM:611302]
|
AR
|
WD28
|
17q12 gain, inherited
|
1.348
|
17q12 duplication [PMID:22241097]
|
Yes
|
HTZ c.1592G>T (p.W531L) likely pathogenic variant in BRAF, dn
|
Cardiofaciocutaneous syndrome 1 [MIM:115150]
|
AD
|
WD26
|
20p12.2p11.23 gain, inherited
|
7.614
|
Large gain in 20p
|
Yes
|
HTZ c.310C>G (p.R104G) VUS in MKL2, dn
|
Autism [PMID:22495311,23,375,656]
|
AD
|
WD18
|
22q11.21 gain, dn
|
2.568
|
22q11.2 microduplication syndrome [MIM:608363]
|
Yes
|
HMZ c.664delC (p.L222fs) pathogenic variant in AP4B1
|
Autosomal recessive spastic paraplegia 47 [MIM:614066]
|
AR
|
WD27
|
22q11.21q11.23 del
|
1.833
|
22q11.2 distal deletion [MIM:611867]
|
Yes
|
HTZ c.1574C>T (p.P525L) pathogenic variant in FUS
|
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia [MIM:608030]
|
AD
|
WD34
|
22q13.33 loss, dn
|
0.012
|
22q13.3 deletion syndrome [MIM:606232]
|
No
|
HTZ c.1474_1485del (p.Y492_F495del) likely pathogenic variant in FOXP1, dn
|
Mental retardation with language impairment and autistic features [MIM:613670]
|
AD
|
WD19*
|
Xp22.31 del
|
1.413
|
X-linked ichthyosis in male [MIM:308100]
|
Yes
|
HMZ c.1376_1377del (p.C459*) pathogenic variant in KIAA2022, dn
|
Mental retardation, X-linked 98 [MIM:300912]
|
X-linked
|
WD31
|
Xp21.1 HMZ del
|
0.001
|
Becker muscular dystrophy [MIM:300376]
|
Yes
|
HTZ c.709G>A (p.E237K) pathogenic variant in KIF5C, dn
|
Complex cortical dysplasia with other brain malformations 2 [MIM:615282]
|
AD
|
WC17
|
Xq28 del
|
0.228
|
Mental retardation, X-linked, FRAXE type [MIM:309548]
|
No
|
HTZ c.3136-2A>G pathogenic variant in ARID1B
|
Coffin-Siris syndrome 1 [MIM:135900]
|
AD
|
WD29
|
47,XXY
|
Entire chrX
|
47,XXY
|
Yes
|
HTZ c.1726C>T (p.R576W) pathogenic variant (dn) and c.1108-5G>A VUS in ATAD3A
|
Harel-Yoon syndrome [MIM:617183]
|
AR, AD
|
WD32
|
47,XYY
|
Entire chrY
|
47,XYY
|
Yes
|
HTZ c.1478dupT (p.S494fs) pathogenic variant in DYRK1A, dn
|
Mental retardation, autosomal dominant 7 [MIM:614104]
|
AD
|