Table 2.

Recessive genetic disorders with the highest carrier rates in the TWB cohort.

Recessive genetic disorder	Gene	Carrier rate
G6PD deficiency	G6PD	2.49%
Citrullinemia type II	SLC25A13	1.94%
Wilson disease	ATP7B	1.77%
Pendred syndrome	SLC26A4	1.70%
Krabbe Disease	GALC	1.67%
Nonsyndromic hearing loss and deafness	GJB2	1.59%
Nagashima-type palmoplantar keratosis	SERPINB7	1.43%
Primary carnitine deficiency	SLC22A5	0.90%
Hereditary spastic paraplegia 5	CYP7B1	0.83%
Congenital hypothyroidism	TSHR	0.71%
Sitosterolemia	ABCG5	0.66%
Beta Thalassemia	HBB	0.59%
Total iodide organification defect	TPO	0.56%
Joubert Syndrome	CEP290	0.51%
Usher syndrome	USH2A	0.50%
Phenylketonuria	PAH	0.48%
Mucolipidosis type III	GNPTAB	0.44%
Waardenburg syndrome	EDNRB	0.40%
Congenital Disorder of Glycosylation 1a	PMM2	0.40%
Glutaric aciduria 1	GCDH	0.38%