Table 4.

Autosomal recessive genes for screening with carrier frequency <1/150 to ≥1/200.

OMIM gene	OMIM gene name	Maximum carrier frequencya	OMIM phenotype	Conditions
609575	ACADVL	0.006419	201475	Very long chain acyl-CoA dehydrogenase deficiency
608310	ASL	0.006190	207900	Argininosuccinate aciduria
607261	EVC2	0.006083	225500	Chondroectodermal dysplasia
607574	ARSA	0.005986	250100	Metachromatic leukodystrophy
251170	MVK	0.005966	260920	Hyper-IgD syndrome
			610377	Mevalonic aciduria
606702	PKHD1	0.005960	263200	Autosomal recessive polycystic kidney disease
609019	BTD	0.005953	253260	Biotinidase deficiency
171760	ALPL	0.005719	146300	Hypophosphatasia, adult
			241510	Hypophosphatasia, childhood and infantile
209901	BBS1	0.005713	209900	Bardet–Biedl syndrome 1
118425	CLCN1	0.005688	255700	Congenital myotonia, autosomal recessive form
609506	CYP27B1	0.005512	264700	Vitamin D–dependent rickets, type 1
174763	POLG	0.005330	203700	Mitochondrial DNA depletion syndrome 4A
			613662	Mitochondrial DNA depletion syndrome 4B
609014	MCCC2	0.005184	210210	3-methylcrotonyl CoA carboxylase 2 deficiency
605908	MLC1	0.005058	604004	Megalencephalic leukoencephalopathy with subcortical cysts
607809	ACAT1	0.005000	203750	α-Methylacetoacetic aciduria
612013	CC2D2A	0.004969	612285	Joubert syndrome 9
			612284	Meckel syndrome 6
606718	SLC26A2	0.004715	226900	Epiphyseal dysplasia, multiple, 4
			600972	Achondrogenesis Ib
236200	CBS	0.004676	236200	Homocystinuria, B6 responsive and nonresponsive
600073	LRP2	0.004676	222448	Donnai–Barrow syndrome
252800	IDUA	0.004675	607014	Mucopolysaccharidosis, Ih (Hurler S)
			607015	Mucopolysaccharidosis, Ih/s (Hurler–Scheie S)
606596	FKRP	0.004668	613153	Muscular dystrophy–dystroglycanopathy, type A, 5
			606612	Muscular dystrophy–dystroglycanopathy, type B, 5
610326	RNASEH2B	0.004609	610181	Aicardi Goutieres syndrome 2
611524	RARS2	0.004592	611523	Pontocerebellar hypoplasia type 6

OMIM Online Mendelian Inheritance in Man.⁵⁵

^aAfter rounding values are < 0.007 and ≥ 0.005 (two decimal places).