Table 2 Causative variants identified in the resolved cases
From: Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
Phenotype | Gene panel | Identified pathogenic variant(s) | |
|---|---|---|---|
1 | Short rib polydactyly | Short rib polydactyly panel (10 genes) | NM_001377.2(DYNC2H1_v001):c.1953G>A:p.(=) |
NM_001377.2(DYNC2H1_v001):c.4625 C>T:p.(Ala1542Val) | |||
2 | Severe ID | ID (536 genes) | NM_000489.4(ATRX_v001):c.6122G>A:p.(Ser2041Asn) |
3 | Intellectual disability, microcephaly | ID (536 genes) | NM_004380.2(CREBBP_v001):c.4665A>C:p.(Glu1555Asp) |
4 | Cornelia de Lange syndrome | Cornelia de Lange panel (5 genes) | NM_015384.4(NIPBL_v001):c.5483G>A:p.(Arg1828Gln) |
5 | Intellectual disability | ID (536 genes) | NM_004187.3(KDM5C_v001):c.769_770del :p.(Leu257Alafs*5) |
6 | Glomerulopathy | Glomerulopathy and Alport panel (61 genes) | NM_000495.4(COL4A5_v001):c.2288G>A:p.(Gly763Glu) |
7 | Intellectual disability, psychotic symptoms | ID (536 genes) | NM_033517.1(SHANK3_v001):c.3637dup:p.(His1213Profs*83) |
8 | Microcephalic primordial dwarfism | MPD panel (18 genes) | NM_002312.3(LIG4_v001):c.2321T>C:p.(Leu774Pro) |
NM_002312.3(LIG4_v001):c.2440C>T c.2440 C>T p.(Arg814*) | |||
9 | Kallmann syndrome | Kallmann panel (21 genes) | NM_015850.3(FGFR1_v001):c.1444del:p.(Leu482Trpfs*25) |
10 | Dyskinesia, dystonia, myoclonia | Dystonia panel (8 genes) | NM_003919.2(SGCE_v001):c.783dup :p.(Phe262Ilefs*8) |
11 | Cardiac arrest | Cardiomyopathy panel (66 genes) | NM_001035.2(RYR2_v001):c.14711G>A:p.(Gly4904Asp) |
12 | Periodic fever syndrome | Periodic fever panel (4 genes) | NM_004895.4(NLRP3_v001):c.1049C>T:p.(Thr350Met) |
13 | Intellectual disability, microcephaly, strabismus | ID (536 genes) | NM_021140.3(KDM6A_v001):c.3598C>T :p.(Leu1200Phe) |
14 | Hereditary spastic paraplegia | Hereditary spastic paraplegia panel (45 genes) | NM_014846.3(KIAA0196_v001):c.1857G>C:p.(Leu619Phe) |
15 | Epileptic encephalopathy | Epilepsy panel (395 genes) | NM_020473.3(PIGA_v001):c.481G>A:p.(Glu161Lys) |
16 | Gitelman syndrome | Gitelman syndrome panel (2 genes) | NM_000339.2(SLC12A3_v001):c.1924C>G:p.(Arg642Gly) |
17 | Autism, Intellectual disability, trigonocephaly | ID (536 genes) | NM_001111125.2(IQSEC2_v001):c.2477T>C:p.(Met826Thr) |
18 | Aortic dissection | Aneurysm panel (20 genes) | NM_000138.4(FBN1_v001):c.6616G>A:p.(Asp2206Asn) |
19 | Epileptic encephalopathy | Epileptic encephalopathy (141 genes) | NM_004518.4(KCNQ2_v001):c.821C>T :p.(Thr274Met) |
20 | Kabuki syndrome | Kabuki panel (2 genes) | NM_003482.3(KMT2D_v001):c.12661C>T:p.(Gln4221*) |
21 | Hereditary Spastic paraparesis | Spastic paraparesis panel (11 genes) | NM_199436.1(SPAST_v001):c.1015C>T :p. (Leu339Phe) |
22 | Ohdo syndrome | KAT6B gene | NM_001256468.1(KAT6B_v001):c.4652_4661dup:p.(Gln1554Hisfs*41) |
23 | Neurofibramotosis type 1 | NF panel (2 genes) | NM_000267.3 (NF1_v001):c1381C>T: p.(Arg461*) |
24 | Inclusion body myositis | Inclusion body myosotis panel (10 genes) | NM_001927.3 (DES_v001):c.1155G>T:p.(Asp399Tyr) |
25 | Noonan syndrome | Noonan and rasopathy syndrome (12 genes) | NM_002834.3 (PTPN11_v001):c.797G>C:p.(Glu139Asp) |
26 | Periodic fever | Personalized periodic fever panel (207 genes) | NM_000243.2 (MEFV_v001):c.2084A>G:p.(Lys695Arg) |
27 | Charcot Marie Tooth type 2 | CMT2 panel (23 genes) | NM_001005373.3 (LRSAM1_v001):c.2069T>C:p.(Cys690Arg) |
28 | Hypoglycemia on congenital hyperinsulinemia | Congenital hyperinsulinemia panel (10 genes) | NM_000525.3 (KCNJ11_v001):c.400T>C:p.(Leu147Pro) |
NM_000525.3 (KCNJ11_v001):c.154C>T:p.(Gln52*) | |||
29 | Cardiomyopathy | Cardiomyopathy panel (66 genes) | NM_001018008.1 (TPM1_v001):c.304G>A:p.(Glu102Lys) |
30 | Intellectual disability, epilepsy | Intellectual disability panel (537 genes) | NM_000834.3 (GRIN2B_v001):c.1598G>A:p.(Gly533Asp) |
31 | X-linked intellectual disability | Intellectual disability panel (990 genes) | NM_003916.4 (AP1S2_v001):c.1-3C>A |
32 | Lissencephaly | Lissencephaly panel (12 genes) | NM_000403.3 (PAFAH1B1_v001):c.162dupA:p.(Trp55Metfs*6) |
33 | Vascular leukoencephalopathy | Vascular leukoencephalopathy panel (7 genes) | NM_002775.4 (HTRA1_v001):c.854C>T:p.(Pro285Leu) |
34 | Cardiomyopathy | Cardiomyopathy panel (66 genes) | NM_000256.3 (MYBPC3_v001):c.3324-3325del:p.(Lys1108Asnfs*41) |
35 | Cardiomyopathy | Cardiomyopathy panel (66 genes) | NM_000256.3 (MYBPC3_v001):c.3697C>T:p.(Gln1233*) |
36 | Cardiomyopathy and connective tissue disorder | Cardiomyopathy and connective tissue disorder panel (166 genes) | NM_0004415.2 (DSP_v001):c.4003C>T:p.(Gln1335*) |
37 | Intellectual disability | Intellectual disability panel (990 genes) | NM_002834.3 (PTPN11_v001):c.794G>A:p.(Arg265Gln) |
38 | Cystinuria | Cystinuria panel (2 genes) | NM_001243036 (SLC7A9_v001):c.1225-4678_1324del |
39 | Noonan syndrome | Noonan panel (12 genes) | NM_002834.3 (PTPN11_v001):c.923A>G:p.(Asn308Ser) |
40 | Intellectual disability, microcephaly | Personalized panel (2 genes: DYRK1A and DDX3X) | NM_00139.3 (DYRK1A_v001):c.1491delC:p.(Ala498Profs*94) |
41 | Neonatal encephalopathy | Encephalopathy panel (225 genes) | NM_001909.4 (CTSD_v001):c.686_688del:p.(Phe229del) |
42 | Intellectual disability, cryptorchidism | Intellectual disability panel (990 genes) | NM_001243234.1 (TCF4_v001):c.656dupT:p.(Leu219Phefs*9) |
43 | Intellectual disability, obesity | Intellectual disability panel (990 genes) | NM_032531.3 (KIRREL3_v001):c.2019G>A:p.(Met673Ile) |
44 | Epilepsy, vertigo, episodic ataxia | Epilepsy (396 genes) | NM_0010540143.1 (SCN2A_v001):c.2960G>T:p.(Ser987Ile) |
45 | Intellectual disability | Intellectual disability panel (990 genes) | NM_015559.2 (SETBP1_v001):c.2016-2017insT:p.(Lys673*) |
46 | Kabuki syndrome | Kabuki panel (2 genes) | NM_003482.3 (KMT2D_v001):c.2994delT:p(Met999*) |
47 | Long QT syndrome | Arythmia panel (47 genes) | NM_000238.3 (KCNH2_v001):c.1786C>G:p(Pro596Ala) |
48 | Rubinstein-Taybi syndrome | Rubinstein-Taybi syndrome panel (2 genes). | NM_004380.2 (CREBBP_v001). Variant found by MLPA |
49 | Aneurysm and dyslipidemia | Aneurysm and dyslipidemia panel (50 genes) | NM_000041.3 (APOE_v001):c.461G>T:p.(Arg154Leu) |
50 | Marfan syndrome | Marfan syndrome panel (8 genes) | NM_000138.4 (FBN1_v001):c.7339G>A:p.(Glu2447Lys) |
51 | Ehlers-Danlos syndrome | Ehlers-Danlos panel (4 genes) | NM_000093.4 (COL5A1_v001):c.2203dupC:p.(Gln735Profs*25) |
52 | Epileptic encephalopathy and intellectual disability | Intellectual disability and epilepsy panel (1038 genes) | NM_001127648.1 (GABRA1_v001):c.641G>A:p.(Arg214His) |
53 | Intellectual and communication disability | Whole exome | NM_001197104.1 (MLL/KMT2A_v001):c.2633G>A:p.(Arg878Gln) |
54 | Catecholaminergic polymorphic ventricular tachycardia, arrhythmia | Cardiomyopathy panel (66 genes) | NM_001018008.1 (TPM1_v001):c.304G>A:p.(Glu102Lys) |
55 | Dilated non compaction cardiomyopathy | Arythmia and cardiomyopathy panel (97 genes) | NM_003319.4 (TTN_v001):c.49905dup:p.(Pro16636Thrfs*9) |