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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)