Table 1.

Autosomal recessive genes for screening with carrier frequency ≥1/50.

OMIM gene	OMIM gene name	Maximum carrier frequencya	OMIM phenotype	Conditions
141900	HBB	0.119837	603903	Sickle cell anemia β-thalassemia
			613985
613208	XPC	0.050885	278720	Xeroderma pigmentosum
606933	TYR	0.049337	203100	Oculocutaneous albinism type 1A and 1B
			606952
613815	CYP21A2	0.048459	201910	Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
612349	PAH	0.046068	261600	Phenylketonuria
602421	CFTR	0.040972	219700	Cystic fibrosis
600985	TNXB	0.035134	606408	Ehlers–Danlos-like syndrome due to tenascin-X deficiency
606869	HEXA	0.033146	272800	Tay–Sachs disease
121011	GJB2	0.026200	220290	Nonsyndromic hearing loss recessive 1A
			601544	Nonsyndromic hearing loss dominant 3A
602858	DHCR7	0.023709	270400	Smith–Lemli–Opitz syndrome
277900	ATP7B	0.021983	606882	Wilson disease
608034	ASPA	0.019856	271900	Canavan disease
607008	ACADM	0.016583	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency
602716	NPHS1	0.015994	256300	Finnish congenital nephrotic syndrome
601785	PMM2	0.015877	212065	Carbohydrate-deficient glycoprotein syndrome type Ia
607440	FKTN	0.015660	611615	Cardiomyopathy, dilated, 1X
			253800	Walker–Warburg congenital muscular dystrophy
605646	SLC26A4	0.015422	600791	Deafness autosomal recessive 4
			274600	Pendred syndrome
126340	ERCC2	0.015255	610756	Cerebrooculofacioskeletal syndrome 2
			601675	Trichothiodystrophy 1, photosensitive
603297	DYNC2H1	0.014817	613091	Short-rib thoracic dysplasia 3 with or without polydactyly

OMIM Online Mendelian Inheritance in Man.⁵⁵

^aValues round to ≥ 0.02 (two decimal places).