Table 3.

Autosomal recessive genes for screening with carrier frequency <1/100 to ≥1/150.

OMIM gene	OMIM gene name	Maximum carrier frequencya	OMIM phenotype	Conditions
608172	DHDDS	0.009340	613861	Congenital disorder of glycosylation type 1
				Retinitis pigmentosa 59
606152	SLC19A3	0.009163	607483	Basal ganglia disease, biotin-responsive
606999	GALT	0.009132	230400	Galactosemia
118485	CYP11A1	0.008771	613743	Adrenal insufficiency, congenital, with 46, XY sex reversal, partial or complete
190000	TF	0.008615	209300	Atransferrinemia
609831	MMACHC	0.008610	277400	Methylmalonic aciduria with homocystinuria cblC type
601615	ABCA3	0.008587	610921	Surfactant metabolism dysfunction, pulmonary 3
606463	GBA	0.008572	230800	Gaucher disease, type I
			230900	Gaucher disease, type II
605248	MCOLN1	0.008531	252650	Mucolipidosis type IV
607840	GNPTAB	0.008454	252500	Mucolipidosis type II alpha/beta
			252600	Mucolipidosis type III alpha/beta
613228	AGA	0.008364	208400	Aspartylglucosaminuria
605514	PCDH15	0.008330	609533	Deafness, autosomal recessive 23
			602083	Usher syndrome, type 1F
613871	FAH	0.007716	276700	Tyrosinemia type I
607358	AIRE	0.007664	240300	Autoimmune polyendocrinopathy syndrome type I
606151	BBS2	0.007501	615981	Bardet–Biedl syndrome 2
			616562	Retinitis pigmentosa 74
606530	CYP27A1	0.007399	213700	Cerebrotendinous xanthomatosis
611204	CCDC88C	0.007282	236600	Congenital hydrocephalus 1
136132	FMO3	0.007190	602079	Trimethylaminuria
613277	TMEM216	0.007107	608091	Joubert syndrome 2
			603194	Meckel syndrome 2
605080	CNGB3	0.006849	262300	Achromatopsia 3
607117	MCPH1	0.006822	651200	Primary microcephaly 1, recessive
602671	SLC37A4	0.006748	232220	Glycogen storage disease Ib
			232240	Glycogen storage disease Ic
170280	PRF1	0.006734	603553	Hemophagocytic lymphohistiocytosis, familial, 2
604272	SCO2	0.006671	604377	Mitochondrial complex IV deficiency, nuclear type 2
604285	AGXT	0.006648	259900	Hyperoxaluria, primary type I

OMIM Online Mendelian Inheritance in Man.⁵⁵

^aAfter rounding values are < 0.01 and ≥ 0.007 (two decimal places).