Table 2 Exome data verifying (n=32) or suggesting (n=5) a Mendelian disorder
From: Genomic diagnostics within a medically underserved population: efficacy and implications
Proband no. | Age at intake (yrs) | Configuration (type: affected; unaffected) | Samples post-exome (affected; unaffected) | Final diagnosis/phenotype | OMIM/status | Allele 1 | Zygosity | Allele 2 | Zygosity | Inheritance |
|---|---|---|---|---|---|---|---|---|---|---|
8 | 5.8 | I:1;6 | Bethlem myopathy | 158810 | COL6A1 c.1056 + 1 G > A | Het | DND | |||
9 | 0.3 | I:1;4 | CHARGE syndrome | 214800 | CHD7 c.7957 C > T, p.(Arg2653Ter) | Het | DND | |||
10 | 49.8 | I:1;2 | Coffin-Siris syndrome 1 (CSS1) | 614562 | ARID1B c.5226_5229delAGAA, p.(Glu1743Alafs) | Het | DND | |||
11 | 0.7 | I:1;3 | Cortical dysplasia (CDCBM1) | 614039 | TUBB3 c.317 C > T, p.(Thr106Met) | Het | DND | |||
12 | 6.2 | I:1;8 | Epileptic encephalopathy | 615369 | CHD2 c.4767_4768 delCT, p.(Leu1591Aspfs) | Het | DND | |||
13 | 1.1 | I:1;2 | Intellectual disability (MRD19) | 615075 | CTNNB1 c.998dupA, p.(Tyr333Ter) | Het | DND | |||
14 | 8.9 | I:1;7 | Intellectual disability (MRD29) | 616078 | SETBP1 c.4309 A > G, p.(Lys1437Glu) | Het | DND | |||
15 | 0 | I:1;3 | Intellectual disability (MRD31) | 616158 | PURA c.697_699delTTC, p.(Phe233del) | Het | DND | |||
16 | 3.4 | I:1;4 | Intellectual disability (MRD5) | 612621 | SYNGAP1 c.1526 C > A, p.(Ala509Asp) | Het | DND | |||
17 | 1.6 | I:1;4 | Intellectual disability (MRD5) | 612621 | SYNGAP1 c.3582 + 3 A > C | Het | DND | |||
18 | 12.9 | I:1;10 | Intellectual disability (MRD5) | 612621 | SYNGAP1 c.936_937insC, (pGlu313Argfs) | Het | DND | |||
19 | 0.1 | I:1;6 | Myhre syndrome | 139210 | SMAD4 c.1182_1197delAGGTGATGTTTGGGTC, p.(Asp396Alafs) | Het | DND | |||
20 | 15.7 | I:1;8 | Phelan–McDermid syndrome | 606232 | SHANK3 c.5129 G > A, p.(Leu1696Gln) | Het | TCF20 c.1151 C > G, p.(Ser384Cys) | Het | DND | |
21 | 1 | I:1;6 | Pitt–Hopkins syndrome | 610954 | TCF4 c.2033 G > A, p.(Arg412Gln) | Het | DND | |||
22 | 1 | I:1;5 | Primary aldosteronism, seizures, neurologic abnormalities | 615474 | CACNA1D c.2245 G > A, p.(Ala749Thr) | Het | DND | |||
23 | 5.2 | I:1;10 | Rett syndrome | 312750 | MECP2 c.3 G > A, p.(M1 ? ) | Het | DND | |||
24 | 0 | S:2;3 | Diastrophic dysplasia, Charcot-Marie-Tooth 4 C (CMT4C) | 222600, 601596 | SLC26A2 c.835 C > T, p.(Arg279Trp) | Hmz | SH3TC2 c.2860 C > T, p.(Arg954Ter) | Hmz | AR | |
25 | 0.3 | I:1;5 | GM3 synthase deficiency | 609056 | ST3GAL5 c.862 C > T, p.(Arg265Ter) | Hmz | AR | |||
26 | 16.1 | S:2;2 | Intellectual disability (MRT34) | 614499 | CRADD c.382 G > C, p.(Gly128Arg) | Hmz | AR | |||
27 | 3 | I:1;5 | Myoclonic-astatic epilepsy | 616421 | CACNA1G c.6423_6424delCT, p.(Ser2142Tyrfs) | Hmz | AR | |||
28 | 0 | S:2;3 | Neonatal inflammatory skin and bowel disease (NISBD2) | 616069 | EGFR c.560-2_565delAGGCCAAA | Hmz | AR | |||
29 | 1.4 | I:1;4 | Non-syndromic sensorineural hearing loss | 611451 | LRTOMT c.95_108delGGACCATGTCCCCT, p.(Thr33Hisfs) | Hmz | AR | |||
30 | 0.9 | I:1;4 | 2;4 | Poretti-Boltshauser syndrome | 615960 | LAMA1 c.8556 + 1 G > T | Hmz | AR | ||
31 | 19 | I:1;2 | Syndromic global developmental delay | ELP2 c.1385 A > G, p.(Arg462Gln) | Hmz | AR | ||||
32 | 1.1 | I:1;7 | 3;2 | Syndromic global developmental delay | YARS c.499 C > A, p.(Pro167Thr) | Hmz | AR | |||
33 | 13.5 | I:1;3 | Dopa-responsive (Segawa) syndrome | 605407 | TH c.1083 C > G, p.(His361Gln) | Het | TH c.1411 G > T p.(Ala471Ser) | Het | AR | |
34 | 0 | S:2;5 | Oculocutaneous albinism II (OCA2) | 203200 | OCA2 c.823 A > G, p.(Thr275Ala) | Het | OCA2 c.2433 G > T, p.(Arg811Ser) | Het | AR | |
35 | 5.9 | I:1;2 | Epilepsy with febrile seizures+ | 604233 | SCN1B c.305_313delAGGATCTGT, p.(Gln102_Ser105delinsPro) | Het | AD | |||
36 | 9.5 | P:6;16 | Epilepsy with febrile seizures+ | 604233 | NPRL3 c.349_349delG, p.(Glu117Lysfs) | Het | AD | |||
37 | 12.2 | P:5;5 | Epilepsy with febrile seizures+ | 604233 | SCN1B c.350 G > A, p.(Gly117Asp) | Het | AD | |||
38 | 11.6 | S:4;3 | 4;2 | X-linked Turner-type syndromic developmental delay | 300706 | HUWE1 c.12389 G > A, p.(Arg4130Gln) | Hemi | XLR | ||
39 | 6.6 | S:2;3 | Rubinstein–Taybi syndrome | 180849 | CREBBP c.1823 + 5 G > A | Het | GLM | |||
40 | 3 | I:1;6 | Microcephaly, vision impairment, absent corpus callosum, epilepsy | Provisional | CHD1 c.377 C > A, p.(Ser126Tyr) | Het | CHD1 c.4681 C > T, p.(His1561Tyr) | Het | AR | |
41 | 9.8 | S:2;3 | 1;0 | ID, epilepsy, OCD, autism, dysmorphic features | Provisional | JKAMP c.243_244dupG, p.(Lys81Glufs*16) | Hmz | AR | ||
42 | 13 | S:3;2 | 1;7 | Progressive high-frequency hearing loss | Provisional | NIN c.4666 C > T, p.(Gln1556Ter) | Hmz | AR | ||
43 | 3.2 | S:2;6 | Motor delay, C1 dysplasia, hearing loss, tracheomalacia, cyrptorchidism | Provisional | NUP188 c.313 C > T, p.(Arg105Trp) | Het | NUP188 c.3429 + 5 G > A | Het | AR | |
44 | 4.8 | I:1;3 | Growth failure, speech delay, hypotonia, motor apraxia, Ebstein anomaly | Provisional | BMP2 c.949dupC, p.(Tyr320Valfs*16) | Het | DND |
