Table 2.
Carriage rate of pathogenic and/or likely pathogenic variants found in genes relevant to Mendelian diseases in 100 participants.
| GENE | Carriage Rate (%) | Related Disease | GENE | Carriage Rate (%) | Related Disease |
|---|---|---|---|---|---|
| CYP21A2 | 14.7 | Adrenal hyperplasia due to 21-hydroxylase deficiency | C12orf65 | 1.47 | Combined oxidative phosphorylation deficiency 7 and spastic paraplegia 55 |
| HBB | 11.76 | Thalassemia, β | CCBE1 | 1.47 | Hennekam lymphangiectasia–lymphedema syndrome 1 |
| BTD | 10.29 | Biotinidase deficiency | CDK10 | 1.47 | Al Kaissi syndrome |
| CFTR | 8.82 | Cystic fibrosis | CEP135 | 1.47 | Microcephaly 8 |
| RBM8A | 8.82 | Thrombocytopenia-absent radius syndrome | CHRNG | 1.47 | Escobar syndrome and multiple pterygium syndrome, lethal type |
| GAA | 5.88 | Glycogen storage disease II | MUTYH | 1.47 | Adenomas, multiple colorectal |
| GJB2 | 4.41 | Deafness | CLCN1 | 1.47 | Myotonia congenita |
| PAH | 4.41 | Phenylketonuria | COL18A1 | 1.47 | Knobloch syndrome, type 1 |
| ATP7B | 2.94 | Wilson disease | KIAA0586 | 1.47 | Joubert syndrome 23 and short-rib thoracic dysplasia 14 with polydactyly |
| GALC | 2.94 | Krabbe disease | SLC25A26 | 1.47 | Combined oxidative phosphorylation deficiency 28 |
| PYGM | 2.94 | McArdle disease | FANCE | 1.47 | Fanconi anemia, complementation group E |
| COL4A3 | 2.94 | Alport syndrome | FTCD | 1.47 | Glutamate formiminotransferase deficiency |
| CYP11B2 | 2.94 | Hypoaldosteronism | G6PD | 1.47 | Hemolytic anemia, G6PD-deficient (favism) |
| ECHS1 | 2.94 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | GHR | 1.47 | Laron dwarfism |
| HBA1 | 2.94 | Thalassemia, α | HBA2 | 1.47 | Thalassemia, α |
| LAMA2 | 2.94 | Muscular dystrophy | MFSD8 | 1.47 | Ceroid lipofuscinosis, neuronal, 7 and Macular dystrophy with central cone involvement |
| OPHN1 | 2.94 | Intellectual developmental disorder, Billuart type | MOCS2 | 1.47 | Molybdenum cofactor deficiency B |
| POLR3A | 2.94 | Wiedemann–Rautenstrauch syndrome and leukodystrophy | PGAP3 | 1.47 | Hyperphosphatasia with impaired intellectual development syndrome 4 |
| MYH7 | 1.47 | Congenital myopathy 7B, myosin storage | NPHS1 | 1.47 | Nephrotic syndrome, type 1 |
| IFIH1 | 1.47 | Immunodeficiency 95 | PKLR | 1.47 | Pyruvate kinase deficiency |
| EXPH5 | 1.47 | Epidermolysis bullosa simplex 4 | PYROXD1 | 1.47 | Myopathy, myofibrillar, 8 |
| POMT1 | 1.47 | Muscular dystrophy | TNFRSF13B | 1.47 | Immunodeficiency, common variable, 2 |
| ACADM | 1.47 | Deficiency of acyl-CoA dehydrogenase, medium-chain | ABCD1 | 1.47 | Adrenoleukodystrophy |
| NAGS | 1.47 | N-acetylglutamate synthase deficiency | NPC1 | 1.47 | Niemann–Pick disease |
| SUCLG1 | 1.47 | Mitochondrial DNA depletion syndrome 9 | PLOD2 | 1.47 | Bruck syndrome 2 |
| ASS1 | 1.47 | Citrullinemia | DHTKD1 | 1.47 | α-aminoadipic and α-ketoadipic aciduria |
| CYP27A1 | 1.47 | Cerebrotendinous xanthomatosis | GALT | 1.47 | Galactosemia |
| AMT | 1.47 | Glycine encephalopathy 2 | SBDS | 1.47 | Shwachman–Diamond syndrome 1 |
| PCCA | 1.47 | Propionicacidemia | WDR35 | 1.47 | Cranioectodermal dysplasia 2 and Short-rib thoracic dysplasia 7 with or without polydactyly |
| SEC23B | 1.47 | Dyserythropoietic anemia, congenital, type II | ABCC6 | 1.47 | Arterial calcification, generalized, of infancy, 2 and Pseudoxanthoma elasticum |
| FBXL4 | 1.47 | Mitochondrial DNA depletion syndrome 13 | COLQ | 1.47 | Myasthenic syndrome, congenital, 5 |
| CTSK | 1.47 | Pycnodysostosis | GCH1 | 1.47 | Dystonia, DOPA-responsive and hyperphenylalaninemia, BH4-deficient, B |