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Table 2 Carrier frequency of the disorders screened

From: NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study

S.no Disease name (OMIM no.) N (no. of carriers)/200 individuals % 1 in _ Wilson 95% Confidence Interval
Lower % Upper %
  Total no. of carrier individuals 52 26 3.84 19.9 31.9
1 Cystic fibrosis - CFTR (219700) 9 4.5 22.22 2.4 8.3
2 Deafness - SCL26A4 (274600) 5 2.5 40.0 0.78 5
3 Deafness - GJB2 (220290) 3 1.5 66.67 0.5 4.3
4 Deafness - TMPRSS3 (601072) 3 1.5 66.67 0.5 4.3
5 GSD type II - GAA (232300) 3 1.5 66.67 0.5 4.3
6 Methyl malonicaciduria mut A – MMAA (251100) 2 1 100 0.27 3.6
7 AR polycystic kidney – PKHD1 (263200) 2 1 100 0.27 3.6
8 Galactosemia - GALT (230400) 2 1 100 0.27 3.6
9 Smith Lemli Opitz syndrome – DHCR7 (270400) 2 1 100 0.27 3.6
10 Albinism type II - OCA2 (203200) 2 1 100 0.27 3.6
11 Megalencephalic leukoencephalopathy with cysts -MLC1 (604004) 2 1 100 0.27 3.6
12 Gaucher disease - GBA (230800) 2 1 100 0.27 3.6
13 Phenylketonuria – PAH (261600) 2 1 100 0.27 3.6
14 Epidermolysis bullosa (Junctional) -LAMC2(226,700, 226,650) 2 1 100 0.27 3.6
15 Niemann Pick disease type C1 – NPC1 (257220) 1 0.5 200 0.088 2.77
16 Deafness - TMC1 (600974) 1 0.5 200 0.088 2.77
17 Biotinidase deficiency - BTD (253260) 1 0.5 200 0.088 2.77
18 Medium chain acyl CoA deficiency -ACADM (201450) 1 0.5 200 0.088 2.77
19 Limb girdle muscle dystrophy type 2A -CAPN3 (253600) 1 0.5 200 0.088 2.77
20 Congenital adrenal hyperplasia -CYP21A2(201910) 1 0.5 200 0.088 2.77
21 Primary hyperoxaluria type 1 - AGXT (259900) 1 0.5 200 0.088 2.77
22 Argininosuccinic aciduria - ASL (207900) 1 0.5 200 0.088 2.77
23 Canavan disease - ASPA (271900) 1 0.5 200 0.088 2.77
24 Glutaric aciduria type 1 – GCDH (231670) 1 0.5 200 0.088 2.77
25 Krabbe disease - GALC (245200) 1 0.5 200 0.088 2.77
26 Congenital ichthyosis - TGM1 (242300) 1 0.5 200 0.088 2.77
27 Metachromatic leukodystrophy – ARSA (250100) 1 0.5 200 0.088 2.77
28 Zellweger syndrome – PEX1 (214100) 1 0.5 200 0.088 2.77
29 Epidermolysis bullosa dystrophica – COL7A1 (226600) 1 0.5 200 0.088 2.77
30 Very long chain acyl CoA dehydrogenase deficiency - ACADVL (201475) 1 0.5 200 0.088 2.77
  1. P Pathogenic, LP Likely pathogenic
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BMC Medical Genetics

ISSN: 1471-2350

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