Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
AAAS	gene	AAAS	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Achalasia-addisonianism-alacrimia syndrome, 231550 (3)						False	3	0;0;0	1.5	False		ENSG00000094914	ENSG00000094914	HGNC:13666													
AARS2	gene	AARS2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 8, 614096 (3)						False	3	0;0;0	1.5	False		ENSG00000124608	ENSG00000124608	HGNC:21022													
ABCA12	gene	ABCA12	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)						False	3	0;0;0	1.5	False		ENSG00000144452	ENSG00000144452	HGNC:14637													
ABCA3	gene	ABCA3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)						False	3	0;0;0	1.5	False		ENSG00000167972	ENSG00000167972	HGNC:33													
ABCB11	gene	ABCB11	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cholestasis, progressive familial intrahepatic 2, 601847 (3)						False	3	0;0;0	1.5	False		ENSG00000073734	ENSG00000073734	HGNC:42													
ABCB4	gene	ABCB4	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cholestasis, progressive familial intrahepatic 3, 602347 (3)						False	3	0;0;0	1.5	False		ENSG00000005471	ENSG00000005471	HGNC:45													
ABCC8	gene	ABCC8	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)						False	3	0;0;0	1.5	False		ENSG00000006071	ENSG00000006071	HGNC:59													
ABCD1	gene	ABCD1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Adrenoleukodystrophy, 300100 (3)						False	3	0;0;0	1.5	False		ENSG00000101986	ENSG00000101986	HGNC:61													
ACAD9	gene	ACAD9	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)						False	3	0;0;0	1.5	False		ENSG00000177646	ENSG00000177646	HGNC:21497													
ACADM	gene	ACADM	Expert Review;Expert Review Green	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450						False	3	0;0;0	1.5	False		ENSG00000117054	ENSG00000117054	HGNC:89													
ACADVL	gene	ACADVL	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	VLCAD deficiency, 201475 (3)						False	3	0;0;0	1.5	False		ENSG00000072778	ENSG00000072778	HGNC:92													
ACAT1	gene	ACAT1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Alpha-methylacetoacetic aciduria, 203750 (3)						False	3	0;0;0	1.5	False		ENSG00000075239	ENSG00000075239	HGNC:93													
ACOX1	gene	ACOX1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)						False	3	0;0;0	1.5	False		ENSG00000161533	ENSG00000161533	HGNC:119													
ADA	gene	ADA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Adenosine deaminase deficiency, partial, 102700 (3)						False	3	0;0;0	1.5	False		ENSG00000196839	ENSG00000196839	HGNC:186													
ADAMTS2	gene	ADAMTS2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, type VIIC, 225410 (3)						False	3	0;0;0	1.5	False		ENSG00000087116	ENSG00000087116	HGNC:218													
ADAR	gene	ADAR	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 6, 615010 (3)						False	3	0;0;0	1.5	False		ENSG00000160710	ENSG00000160710	HGNC:225													
ADGRG1	gene	ADGRG1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Polymicrogyria, bilateral frontoparietal, 606854 (3)						False	3	0;0;0	1.5	False		ENSG00000205336	ENSG00000205336	HGNC:4512													
ADGRV1	gene	ADGRV1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type 2C, 605472 (3)						False	3	0;0;0	1.5	False		ENSG00000164199	ENSG00000164199	HGNC:17416													
ADSL	gene	ADSL	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Adenylosuccinase deficiency, 103050 (3)						False	3	0;0;0	1.5	False		ENSG00000239900	ENSG00000239900	HGNC:291													
AGA	gene	AGA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Aspartylglucosaminuria, 208400 (3)						False	3	0;0;0	1.5	False		ENSG00000038002	ENSG00000038002	HGNC:318													
AGK	gene	AGK	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Sengers syndrome, 212350 (3)						False	3	0;0;0	1.5	False		ENSG00000006530	ENSG00000006530	HGNC:21869													
AGL	gene	AGL	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Glycogen storage disease IIIa, 232400 (3)						False	3	0;0;0	1.5	False		ENSG00000162688	ENSG00000162688	HGNC:321													
AGPS	gene	AGPS	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3)						False	3	0;0;0	1.5	False		ENSG00000018510	ENSG00000018510	HGNC:327													
AGXT	gene	AGXT	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hyperoxaluria, primary, type 1, 259900 (3)						False	3	0;0;0	1.5	False		ENSG00000172482	ENSG00000172482	HGNC:341													
AHI1	gene	AHI1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome-3, 608629 (3)						False	3	0;0;0	1.5	False		ENSG00000135541	ENSG00000135541	HGNC:21575													
AIFM1	gene	AIFM1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Cowchock syndrome, 310490 (3)						False	3	0;0;0	1.5	False		ENSG00000156709	ENSG00000156709	HGNC:8768													
AIPL1	gene	AIPL1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cone-rod dystrophy, 604393 (3)						False	3	0;0;0	1.5	False		ENSG00000129221	ENSG00000129221	HGNC:359													
AK2	gene	AK2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Reticular dysgenesis, 267500 (3)						False	3	0;0;0	1.5	False		ENSG00000004455	ENSG00000004455	HGNC:362													
ALDH18A1	gene	ALDH18A1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 9B, autosomal recessive, 616586 (3)						False	3	0;0;0	1.5	False		ENSG00000059573	ENSG00000059573	HGNC:9722													
ALDH3A2	gene	ALDH3A2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Sjogren-Larsson syndrome, 270200 (3)						False	3	0;0;0	1.5	False		ENSG00000072210	ENSG00000072210	HGNC:403													
ALDH5A1	gene	ALDH5A1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Succinic semialdehyde dehydrogenase deficiency, 271980 (3)						False	3	0;0;0	1.5	False		ENSG00000112294	ENSG00000112294	HGNC:408													
ALDH7A1	gene	ALDH7A1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Epilepsy, pyridoxine-dependent, 266100 (3)						False	3	0;0;0	1.5	False		ENSG00000164904	ENSG00000164904	HGNC:877													
ALDOB	gene	ALDOB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fructose intolerance, 229600 (3)						False	3	0;0;0	1.5	False		ENSG00000136872	ENSG00000136872	HGNC:417													
ALG1	gene	ALG1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ik, 608540 (3)						False	3	0;0;0	1.5	False		ENSG00000033011	ENSG00000033011	HGNC:18294													
ALG3	gene	ALG3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Id, 601110 (3)						False	3	0;0;0	1.5	False		ENSG00000214160	ENSG00000214160	HGNC:23056													
ALG6	gene	ALG6	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ic, 603147 (3)						False	3	0;0;0	1.5	False		ENSG00000088035	ENSG00000088035	HGNC:23157													
ALMS1	gene	ALMS1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Alstrom syndrome, 203800 (3)						False	3	0;0;0	1.5	False		ENSG00000116127	ENSG00000116127	HGNC:428													
ALPL	gene	ALPL	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypophosphatasia, infantile, 241500 (3)						False	3	0;0;0	1.5	False		ENSG00000162551	ENSG00000162551	HGNC:438													
AMPD2	gene	AMPD2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 9, 615809 (3)						False	3	0;0;0	1.5	False		ENSG00000116337	ENSG00000116337	HGNC:469													
AMT	gene	AMT	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Glycine encephalopathy, 605899 (3)						False	3	0;0;0	1.5	False		ENSG00000145020	ENSG00000145020	HGNC:473													
AP1S2	gene	AP1S2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Pettigrew syndrome, MIM# 304340						False	3	0;0;0	1.5	False		ENSG00000182287	ENSG00000182287	HGNC:560													
AQP2	gene	AQP2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Diabetes insipidus, nephrogenic, 125800 (3)						False	3	0;0;0	1.5	False		ENSG00000167580	ENSG00000167580	HGNC:634													
ARG1	gene	ARG1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Argininemia, 207800 (3)						False	3	0;0;0	1.5	False		ENSG00000118520	ENSG00000118520	HGNC:663													
ARL13B	gene	ARL13B	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 8, 612291 (3)						False	3	0;0;0	1.5	False		ENSG00000169379	ENSG00000169379	HGNC:25419													
ARL6	gene	ARL6	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 3, 600151 (3)						False	3	0;0;0	1.5	False		ENSG00000113966	ENSG00000113966	HGNC:13210													
ARSA	gene	ARSA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Metachromatic leukodystrophy, 250100 (3)						False	3	0;0;0	1.5	False		ENSG00000100299	ENSG00000100299	HGNC:713													
ARSB	gene	ARSB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)						False	3	0;0;0	1.5	False		ENSG00000113273	ENSG00000113273	HGNC:714													
ARX	gene	ARX	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Hydranencephaly with abnormal genitalia, 300215 (3)						False	3	0;0;0	1.5	False		ENSG00000004848	ENSG00000004848	HGNC:18060													
ASL	gene	ASL	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Argininosuccinic aciduria, 207900 (3)						False	3	0;0;0	1.5	False		ENSG00000126522	ENSG00000126522	HGNC:746													
ASNS	gene	ASNS	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Asparagine synthetase deficiency, 615574 (3)						False	3	0;0;0	1.5	False		ENSG00000070669	ENSG00000070669	HGNC:753													
ASPA	gene	ASPA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Canavan disease, 271900 (3)						False	3	0;0;0	1.5	False		ENSG00000108381	ENSG00000108381	HGNC:756													
ASPM	gene	ASPM	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 5, primary, autosomal recessive, 608716 (3)						False	3	0;0;0	1.5	False		ENSG00000066279	ENSG00000066279	HGNC:19048													
ASS1	gene	ASS1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Citrullinemia, 215700 (3)						False	3	0;0;0	1.5	False		ENSG00000130707	ENSG00000130707	HGNC:758													
ATM	gene	ATM	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ataxia-telangiectasia, 208900 (3)						False	3	0;0;0	1.5	False		ENSG00000149311	ENSG00000149311	HGNC:795													
ATP6V1B1	gene	ATP6V1B1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Renal tubular acidosis with deafness, 267300 (3)						False	3	0;0;0	1.5	False		ENSG00000116039	ENSG00000116039	HGNC:853													
ATP7A	gene	ATP7A	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Menkes disease, 309400 (3)						False	3	0;0;0	1.5	False		ENSG00000165240	ENSG00000165240	HGNC:869													
ATP7B	gene	ATP7B	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Wilson disease, 277900 (3)				28433102		False	3	0;0;0	1.5	False		ENSG00000123191	ENSG00000123191	HGNC:870													
ATP8B1	gene	ATP8B1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cholestasis, progressive familial intrahepatic 1, 211600 (3)						False	3	0;0;0	1.5	False		ENSG00000081923	ENSG00000081923	HGNC:3706													
ATR	gene	ATR	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 1, 210600 (3)						False	3	0;0;0	1.5	False		ENSG00000175054	ENSG00000175054	HGNC:882													
ATRX	gene	ATRX	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)						False	3	0;0;0	1.5	False		ENSG00000085224	ENSG00000085224	HGNC:886													
AUH	gene	AUH	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	3-methylglutaconic aciduria, type I, 250950 (3)						False	3	0;0;0	1.5	False		ENSG00000148090	ENSG00000148090	HGNC:890													
B3GLCT	gene	B3GLCT	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Peters-plus syndrome, 261540 (3)						False	3	0;0;0	1.5	False		ENSG00000187676	ENSG00000187676	HGNC:20207													
BBS1	gene	BBS1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 1, 209900 (3)						False	3	0;0;0	1.5	False		ENSG00000174483	ENSG00000174483	HGNC:966													
BBS10	gene	BBS10	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 10, 615987 (3)						False	3	0;0;0	1.5	False		ENSG00000179941	ENSG00000179941	HGNC:26291													
BBS12	gene	BBS12	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 12, 615989 (3)						False	3	0;0;0	1.5	False		ENSG00000181004	ENSG00000181004	HGNC:26648													
BBS2	gene	BBS2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 2, 615981 (3)						False	3	0;0;0	1.5	False		ENSG00000125124	ENSG00000125124	HGNC:967													
BBS4	gene	BBS4	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 4, 615982 (3)						False	3	0;0;0	1.5	False		ENSG00000140463	ENSG00000140463	HGNC:969													
BBS5	gene	BBS5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 5, 615983 (3)						False	3	0;0;0	1.5	False		ENSG00000163093	ENSG00000163093	HGNC:970													
BBS7	gene	BBS7	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 7, 615984 (3)						False	3	0;0;0	1.5	False		ENSG00000138686	ENSG00000138686	HGNC:18758													
BBS9	gene	BBS9	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 9, 615986 (3)						False	3	0;0;0	1.5	False		ENSG00000122507	ENSG00000122507	HGNC:30000													
BCKDHA	gene	BCKDHA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Maple syrup urine disease, type Ia, 248600 (3)						False	3	0;0;0	1.5	False		ENSG00000248098	ENSG00000248098	HGNC:986													
BCKDHB	gene	BCKDHB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Maple syrup urine disease, type Ib, 248600 (3)						False	3	0;0;0	1.5	False		ENSG00000083123	ENSG00000083123	HGNC:987													
BCS1L	gene	BCS1L	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	GRACILE syndrome, 603358 (3)						False	3	0;0;0	1.5	False		ENSG00000074582	ENSG00000074582	HGNC:1020													
BLM	gene	BLM	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bloom syndrome, 210900 (3)						False	3	0;0;0	1.5	False		ENSG00000197299	ENSG00000197299	HGNC:1058													
BRAT1	gene	BRAT1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)						False	3	0;0;0	1.5	False		ENSG00000106009	ENSG00000106009	HGNC:21701													
BRWD3	gene	BRWD3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 93, 300659 (3)						False	3	0;0;0	1.5	False		ENSG00000165288	ENSG00000165288	HGNC:17342													
BSND	gene	BSND	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bartter syndrome, type 4a, 602522 (3)						False	3	0;0;0	1.5	False		ENSG00000162399	ENSG00000162399	HGNC:16512													
BTK	gene	BTK	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Agammaglobulinemia and isolated hormone deficiency, 307200 (3)						False	3	0;0;0	1.5	False		ENSG00000010671	ENSG00000010671	HGNC:1133													
C5orf42	gene	C5orf42	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 17, 614615 (3)						False	3	0;0;0	1.5	False		ENSG00000197603	ENSG00000197603	HGNC:25801													
CANT1	gene	CANT1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Desbuquois dysplasia, 251450 (3)						False	3	0;0;0	1.5	False		ENSG00000171302	ENSG00000171302	HGNC:19721													
CAPN3	gene	CAPN3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, type 2A, 253600 (3)						False	3	0;0;0	1.5	False		ENSG00000092529	ENSG00000092529	HGNC:1480													
CASK	gene	CASK	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, with or without nystagmus						False	3	0;0;0	1.5	False		ENSG00000147044	ENSG00000147044	HGNC:1497													
CASQ2	gene	CASQ2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)				34012068		False	3	0;0;0	1.5	False		ENSG00000118729	ENSG00000118729	HGNC:1513													
CC2D1A	gene	CC2D1A	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 3, 608443 (3)						False	3	0;0;0	1.5	False		ENSG00000132024	ENSG00000132024	HGNC:30237													
CC2D2A	gene	CC2D2A	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 9, 612285 (3)						False	3	0;0;0	1.5	False		ENSG00000048342	ENSG00000048342	HGNC:29253													
CCBE1	gene	CCBE1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)						False	3	0;0;0	1.5	False		ENSG00000183287	ENSG00000183287	HGNC:29426													
CCDC103	gene	CCDC103	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 17, 614679 (3)						False	3	0;0;0	1.5	False		ENSG00000167131	ENSG00000167131	HGNC:32700													
CCDC39	gene	CCDC39	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 14, 613807 (3)						False	3	0;0;0	1.5	False		ENSG00000145075	ENSG00000145075	HGNC:25244													
CCDC88C	gene	CCDC88C	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)						False	3	0;0;0	1.5	False		ENSG00000015133	ENSG00000015133	HGNC:19967													
CD3D	gene	CD3D	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 19, 615617 (3)						False	3	0;0;0	1.5	False		ENSG00000167286	ENSG00000167286	HGNC:1673													
CD40	gene	CD40	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency with hyper-IgM, type 3, 606843 (3)						False	3	0;0;0	1.5	False		ENSG00000101017	ENSG00000101017	HGNC:11919													
CD40LG	gene	CD40LG	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)						False	3	0;0;0	1.5	False		ENSG00000102245	ENSG00000102245	HGNC:11935													
CDH23	gene	CDH23	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type 1D, 601067 (3)						False	3	0;0;0	1.5	False		ENSG00000107736	ENSG00000107736	HGNC:13733													
CENPJ	gene	CENPJ	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 6, primary, autosomal recessive, 608393 (3)						False	3	0;0;0	1.5	False		ENSG00000151849	ENSG00000151849	HGNC:17272													
CEP152	gene	CEP152	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 5, 613823 (3)						False	3	0;0;0	1.5	False		ENSG00000103995	ENSG00000103995	HGNC:29298													
CEP290	gene	CEP290	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 5, 610188 (3)						False	3	0;0;0	1.5	False		ENSG00000198707	ENSG00000198707	HGNC:29021													
CEP41	gene	CEP41	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 15, 614464 (3)						False	3	0;0;0	1.5	False		ENSG00000106477	ENSG00000106477	HGNC:12370													
CFTR	gene	CFTR	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cystic fibrosis, 219700 (3)						False	3	0;0;0	1.5	False		ENSG00000001626	ENSG00000001626	HGNC:1884													
CHAT	gene	CHAT	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)						False	3	0;0;0	1.5	False		ENSG00000070748	ENSG00000070748	HGNC:1912													
CHRNE	gene	CHRNE	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)						False	3	0;0;0	1.5	False		ENSG00000108556	ENSG00000108556	HGNC:1966													
CHRNG	gene	CHRNG	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Escobar syndrome, 265000 (3)						False	3	0;0;0	1.5	False		ENSG00000196811	ENSG00000196811	HGNC:1967													
CIITA	gene	CIITA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)						False	3	0;0;0	1.5	False		ENSG00000179583	ENSG00000179583	HGNC:7067													
CKAP2L	gene	CKAP2L	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Filippi syndrome, 272440 (3)						False	3	0;0;0	1.5	False		ENSG00000169607	ENSG00000169607	HGNC:26877													
CLCN5	gene	CLCN5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Dent disease, 300009 (3)						False	3	0;0;0	1.5	False		ENSG00000171365	ENSG00000171365	HGNC:2023													
CLCN7	gene	CLCN7	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteopetrosis, autosomal recessive 4, 611490 (3)						False	3	0;0;0	1.5	False		ENSG00000103249	ENSG00000103249	HGNC:2025													
CLN3	gene	CLN3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 3, 204200 (3)						False	3	0;0;0	1.5	False		ENSG00000188603	ENSG00000188603	HGNC:2074													
CLN5	gene	CLN5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 5, 256731 (3)						False	3	0;0;0	1.5	False		ENSG00000102805	ENSG00000102805	HGNC:2076													
CLN6	gene	CLN6	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal 6, 601780 (3)						False	3	0;0;0	1.5	False		ENSG00000128973	ENSG00000128973	HGNC:2077													
CLN8	gene	CLN8	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 8, 600143 (3)						False	3	0;0;0	1.5	False		ENSG00000182372	ENSG00000182372	HGNC:2079													
CLP1	gene	CLP1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 10, 615803 (3)						False	3	0;0;0	1.5	False		ENSG00000172409	ENSG00000172409	HGNC:16999													
CLPB	gene	CLPB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3)						False	3	0;0;0	1.5	False		ENSG00000162129	ENSG00000162129	HGNC:30664													
CLRN1	gene	CLRN1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type 3A, 276902 (3)						False	3	0;0;0	1.5	False		ENSG00000163646	ENSG00000163646	HGNC:12605													
CNGB3	gene	CNGB3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Macular degeneration, juvenile, 248200 (3)						False	3	0;0;0	1.5	False		ENSG00000170289	ENSG00000170289	HGNC:2153													
COL11A2	gene	COL11A2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fibrochondrogenesis 2, 614524 (3)						False	3	0;0;0	1.5	False		ENSG00000204248	ENSG00000204248	HGNC:2187													
COL17A1	gene	COL17A1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)						False	3	0;0;0	1.5	False		ENSG00000065618	ENSG00000065618	HGNC:2194													
COL18A1	gene	COL18A1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Knobloch syndrome, type 1, 267750 (3)						False	3	0;0;0	1.5	False		ENSG00000182871	ENSG00000182871	HGNC:2195													
COL27A1	gene	COL27A1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Steel Syndrome						False	3	0;0;0	1.5	False		ENSG00000196739	ENSG00000196739	HGNC:22986													
COL4A3	gene	COL4A3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Alport syndrome, autosomal recessive, 203780 (3)						False	3	0;0;0	1.5	False		ENSG00000169031	ENSG00000169031	HGNC:2204													
COL4A4	gene	COL4A4	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Alport syndrome, autosomal recessive, 203780 (3)						False	3	0;0;0	1.5	False		ENSG00000081052	ENSG00000081052	HGNC:2206													
COL4A5	gene	COL4A5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Alport syndrome 1, X-linked						False	3	0;0;0	1.5	False		ENSG00000188153	ENSG00000188153	HGNC:2207													
COL6A1	gene	COL6A1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ullrich congenital muscular dystrophy 1, 254090 (3)						False	3	0;0;0	1.5	False		ENSG00000142156	ENSG00000142156	HGNC:2211													
COL7A1	gene	COL7A1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Epidermolysis bullosa dystrophica, AR, 226600 (3)						False	3	0;0;0	1.5	False		ENSG00000114270	ENSG00000114270	HGNC:2214													
COLEC11	gene	COLEC11	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	3MC syndrome 2, 265050 (3)						False	3	0;0;0	1.5	False		ENSG00000118004	ENSG00000118004	HGNC:17213													
COLQ	gene	COLQ	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Myasthenic syndrome, congenital, 5, 603034 (3)						False	3	0;0;0	1.5	False		ENSG00000206561	ENSG00000206561	HGNC:2226													
COX15	gene	COX15	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)						False	3	0;0;0	1.5	False		ENSG00000014919	ENSG00000014919	HGNC:2263													
CPS1	gene	CPS1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Carbamoylphosphate synthetase I deficiency, 237300 (3)						False	3	0;0;0	1.5	False		ENSG00000021826	ENSG00000021826	HGNC:2323													
CPT1A	gene	CPT1A	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	CPT deficiency, hepatic, type IA, 255120 (3)						False	3	0;0;0	1.5	False		ENSG00000110090	ENSG00000110090	HGNC:2328													
CPT2	gene	CPT2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	CPT II deficiency, lethal neonatal, 608836 (3)						False	3	0;0;0	1.5	False		ENSG00000157184	ENSG00000157184	HGNC:2330													
CRB1	gene	CRB1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leber congenital amaurosis 8, 613835 (3)						False	3	0;0;0	1.5	False		ENSG00000134376	ENSG00000134376	HGNC:2343													
CRTAP	gene	CRTAP	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type VII, 610682 (3)						False	3	0;0;0	1.5	False		ENSG00000170275	ENSG00000170275	HGNC:2379													
CSPP1	gene	CSPP1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 21, 615636 (3)						False	3	0;0;0	1.5	False		ENSG00000104218	ENSG00000104218	HGNC:26193													
CTNS	gene	CTNS	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cystinosis, nephropathic, 219800 (3)						False	3	0;0;0	1.5	False		ENSG00000040531	ENSG00000040531	HGNC:2518													
CTSA	gene	CTSA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Galactosialidosis, 256540 (3)						False	3	0;0;0	1.5	False		ENSG00000064601	ENSG00000064601	HGNC:9251													
CTSC	gene	CTSC	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Papillon-Lefevre syndrome, 245000 (3)						False	3	0;0;0	1.5	False		ENSG00000109861	ENSG00000109861	HGNC:2528													
CTSD	gene	CTSD	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 10, 610127 (3)						False	3	0;0;0	1.5	False		ENSG00000117984	ENSG00000117984	HGNC:2529													
CTSK	gene	CTSK	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pycnodysostosis, 265800 (3)						False	3	0;0;0	1.5	False		ENSG00000143387	ENSG00000143387	HGNC:2536													
CUL4B	gene	CUL4B	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)						False	3	0;0;0	1.5	False		ENSG00000158290	ENSG00000158290	HGNC:2555													
CYBA	gene	CYBA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)						False	3	0;0;0	1.5	False		ENSG00000051523	ENSG00000051523	HGNC:2577													
CYBB	gene	CYBB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Chronic granulomatous disease, X-linked, 306400 (3)						False	3	0;0;0	1.5	False		ENSG00000165168	ENSG00000165168	HGNC:2578													
CYP11A1	gene	CYP11A1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)						False	3	0;0;0	1.5	False		ENSG00000140459	ENSG00000140459	HGNC:2590													
CYP11B2	gene	CYP11B2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)						False	3	0;0;0	1.5	False		ENSG00000179142	ENSG00000179142	HGNC:2592													
CYP17A1	gene	CYP17A1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	17,20-lyase deficiency, isolated, 202110 (3)						False	3	0;0;0	1.5	False		ENSG00000148795	ENSG00000148795	HGNC:2593													
CYP1B1	gene	CYP1B1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)						False	3	0;0;0	1.5	False		ENSG00000138061	ENSG00000138061	HGNC:2597													
CYP27A1	gene	CYP27A1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cerebrotendinous xanthomatosis, 213700 (3)						False	3	0;0;0	1.5	False		ENSG00000135929	ENSG00000135929	HGNC:2605													
CYP7B1	gene	CYP7B1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bile acid synthesis defect, congenital, 3, 613812 (3)						False	3	0;0;0	1.5	False		ENSG00000172817	ENSG00000172817	HGNC:2652													
D2HGDH	gene	D2HGDH	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	D-2-hydroxyglutaric aciduria, 600721 (3)						False	3	0;0;0	1.5	False		ENSG00000180902	ENSG00000180902	HGNC:28358													
DBT	gene	DBT	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Maple syrup urine disease, type II, 248600 (3)						False	3	0;0;0	1.5	False		ENSG00000137992	ENSG00000137992	HGNC:2698													
DCAF17	gene	DCAF17	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Woodhouse-Sakati syndrome, 241080 (3)						False	3	0;0;0	1.5	False		ENSG00000115827	ENSG00000115827	HGNC:25784													
DCLRE1C	gene	DCLRE1C	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Severe combined immunodeficiency, Athabascan type, 602450 (3)						False	3	0;0;0	1.5	False		ENSG00000152457	ENSG00000152457	HGNC:17642													
DCX	gene	DCX	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lissencephaly, X-linked, 300067 (3)						False	3	0;0;0	1.5	False		ENSG00000077279	ENSG00000077279	HGNC:2714													
DDC	gene	DDC	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)						False	3	0;0;0	1.5	False		ENSG00000132437	ENSG00000132437	HGNC:2719													
DDX11	gene	DDX11	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Warsaw breakage syndrome, 613398 (3)						False	3	0;0;0	1.5	False		ENSG00000013573	ENSG00000013573	HGNC:2736													
DGAT1	gene	DGAT1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	?Diarrhea 7, protein-losing enteropathy type						False	3	0;0;0	1.5	False		ENSG00000185000	ENSG00000185000	HGNC:2843													
DGUOK	gene	DGUOK	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)						False	3	0;0;0	1.5	False		ENSG00000114956	ENSG00000114956	HGNC:2858													
DHCR24	gene	DHCR24	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Desmosterolosis, 602398 (3)						False	3	0;0;0	1.5	False		ENSG00000116133	ENSG00000116133	HGNC:2859													
DHCR7	gene	DHCR7	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Smith-Lemli-Opitz syndrome, 270400 (3)						False	3	0;0;0	1.5	False		ENSG00000172893	ENSG00000172893	HGNC:2860													
DHDDS	gene	DHDDS	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa 59, 613861 (3)						False	3	0;0;0	1.5	False		ENSG00000117682	ENSG00000117682	HGNC:20603													
DIS3L2	gene	DIS3L2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Perlman syndrome, 267000 (3)						False	3	0;0;0	1.5	False		ENSG00000144535	ENSG00000144535	HGNC:28648													
DKC1	gene	DKC1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Dyskeratosis congenita, X-linked, 305000 (3)						False	3	0;0;0	1.5	False		ENSG00000130826	ENSG00000130826	HGNC:2890													
DLD	gene	DLD	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Dihydrolipoamide dehydrogenase deficiency, 246900 (3)						False	3	0;0;0	1.5	False		ENSG00000091140	ENSG00000091140	HGNC:2898													
DLG3	gene	DLG3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 90, 300850 (3)						False	3	0;0;0	1.5	False		ENSG00000082458	ENSG00000082458	HGNC:2902													
DLL3	gene	DLL3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)						False	3	0;0;0	1.5	False		ENSG00000090932	ENSG00000090932	HGNC:2909													
DMD	gene	DMD	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Duchenne muscular dystrophy, 310200 (3)						False	3	0;0;0	1.5	False		ENSG00000198947	ENSG00000198947	HGNC:2928													
DNAH11	gene	DNAH11	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)						False	3	0;0;0	1.5	False		ENSG00000105877	ENSG00000105877	HGNC:2942													
DNAH5	gene	DNAH5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)						False	3	0;0;0	1.5	False		ENSG00000039139	ENSG00000039139	HGNC:2950													
DNAI1	gene	DNAI1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)						False	3	0;0;0	1.5	False		ENSG00000122735	ENSG00000122735	HGNC:2954													
DNAI2	gene	DNAI2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)						False	3	0;0;0	1.5	False		ENSG00000171595	ENSG00000171595	HGNC:18744													
DNMT3B	gene	DNMT3B	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)						False	3	0;0;0	1.5	False		ENSG00000088305	ENSG00000088305	HGNC:2979													
DOCK6	gene	DOCK6	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Adams-Oliver syndrome 2, 614219 (3)						False	3	0;0;0	1.5	False		ENSG00000130158	ENSG00000130158	HGNC:19189													
DOK7	gene	DOK7	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Myasthenic syndrome, congenital, 10, 254300 (3)						False	3	0;0;0	1.5	False		ENSG00000175920	ENSG00000175920	HGNC:26594													
DYM	gene	DYM	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Dyggve-Melchior-Clausen disease, 223800 (3)						False	3	0;0;0	1.5	False		ENSG00000141627	ENSG00000141627	HGNC:21317													
DYNC2H1	gene	DYNC2H1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)						False	3	0;0;0	1.5	False		ENSG00000187240	ENSG00000187240	HGNC:2962													
DYSF	gene	DYSF	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, type 2B, 253601 (3)						False	3	0;0;0	1.5	False		ENSG00000135636	ENSG00000135636	HGNC:3097													
ECHS1	gene	ECHS1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)						False	3	0;0;0	1.5	False		ENSG00000127884	ENSG00000127884	HGNC:3151													
EDA	gene	EDA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)						False	3	0;0;0	1.5	False		ENSG00000158813	ENSG00000158813	HGNC:3157													
EIF2AK3	gene	EIF2AK3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Wolcott-Rallison syndrome, 226980 (3)						False	3	0;0;0	1.5	False		ENSG00000172071	ENSG00000172071	HGNC:3255													
EIF2B1	gene	EIF2B1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy with vanishing white matter, 603896 (3)						False	3	0;0;0	1.5	False		ENSG00000111361	ENSG00000111361	HGNC:3257													
EIF2B2	gene	EIF2B2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy with vanishing white matter, 603896 (3)						False	3	0;0;0	1.5	False		ENSG00000119718	ENSG00000119718	HGNC:3258													
EIF2B3	gene	EIF2B3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy with vanishing white matter, 603896 (3)						False	3	0;0;0	1.5	False		ENSG00000070785	ENSG00000070785	HGNC:3259													
EIF2B4	gene	EIF2B4	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leukoencephaly with vanishing white matter, 603896 (3)						False	3	0;0;0	1.5	False		ENSG00000115211	ENSG00000115211	HGNC:3260													
EIF2B5	gene	EIF2B5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leukoencephalopathy with vanishing white matter, 603896 (3)						False	3	0;0;0	1.5	False		ENSG00000145191	ENSG00000145191	HGNC:3261													
ELP1	gene	ELP1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Dysautonomia, familial, 223900 (3)						False	3	0;0;0	1.5	False		ENSG00000070061	ENSG00000070061	HGNC:5959													
EMD	gene	EMD	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)						False	3	0;0;0	1.5	False		ENSG00000102119	ENSG00000102119	HGNC:3331													
ENPP1	gene	ENPP1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)						False	3	0;0;0	1.5	False		ENSG00000197594	ENSG00000197594	HGNC:3356													
EPG5	gene	EPG5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Vici syndrome, 242840 (3)						False	3	0;0;0	1.5	False		ENSG00000152223	ENSG00000152223	HGNC:29331													
ERCC2	gene	ERCC2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cerebrooculofacioskeletal syndrome 2, 610756 (3)						False	3	0;0;0	1.5	False		ENSG00000104884	ENSG00000104884	HGNC:3434													
ERCC4	gene	ERCC4	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group Q, 615272 (3)						False	3	0;0;0	1.5	False		ENSG00000175595	ENSG00000175595	HGNC:3436													
ERCC5	gene	ERCC5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum, group G, 278780 (3)						False	3	0;0;0	1.5	False		ENSG00000134899	ENSG00000134899	HGNC:3437													
ERCC6	gene	ERCC6	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cockayne syndrome, type B, 133540 (3)						False	3	0;0;0	1.5	False		ENSG00000225830	ENSG00000225830	HGNC:3438													
ERCC8	gene	ERCC8	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cockayne syndrome, type A, 216400 (3)						False	3	0;0;0	1.5	False		ENSG00000049167	ENSG00000049167	HGNC:3439													
ESCO2	gene	ESCO2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	SC phocomelia syndrome, 269000 (3)						False	3	0;0;0	1.5	False		ENSG00000171320	ENSG00000171320	HGNC:27230													
ETFA	gene	ETFA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Glutaric acidemia IIA, 231680 (3)						False	3	0;0;0	1.5	False		ENSG00000140374	ENSG00000140374	HGNC:3481													
ETFB	gene	ETFB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Glutaric acidemia IIB, 231680 (3)						False	3	0;0;0	1.5	False		ENSG00000105379	ENSG00000105379	HGNC:3482													
ETFDH	gene	ETFDH	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Glutaric acidemia IIC, 231680 (3)						False	3	0;0;0	1.5	False		ENSG00000171503	ENSG00000171503	HGNC:3483													
ETHE1	gene	ETHE1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ethylmalonic encephalopathy, 602473 (3)						False	3	0;0;0	1.5	False		ENSG00000105755	ENSG00000105755	HGNC:23287													
EVC	gene	EVC	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ellis-van Creveld syndrome, 225500 (3)						False	3	0;0;0	1.5	False		ENSG00000072840	ENSG00000072840	HGNC:3497													
EVC2	gene	EVC2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ellis-van Creveld syndrome, 225500 (3)						False	3	0;0;0	1.5	False		ENSG00000173040	ENSG00000173040	HGNC:19747													
EXOSC3	gene	EXOSC3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 1B, 614678 (3)						False	3	0;0;0	1.5	False		ENSG00000107371	ENSG00000107371	HGNC:17944													
EXOSC8	gene	EXOSC8	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 1C, 616081 (3)						False	3	0;0;0	1.5	False		ENSG00000120699	ENSG00000120699	HGNC:17035													
F2	gene	F2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypoprothrombinaemia (MIM#613679);Dysprothrombinaemia, 613679						False	3	0;0;0	1.5	False		ENSG00000180210	ENSG00000180210	HGNC:3535													
FAH	gene	FAH	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Tyrosinemia, type I, 276700 (3)						False	3	0;0;0	1.5	False		ENSG00000103876	ENSG00000103876	HGNC:3579													
FAM126A	gene	FAM126A	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 5, 610532 (3)						False	3	0;0;0	1.5	False		ENSG00000122591	ENSG00000122591	HGNC:24587													
FANCA	gene	FANCA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group A, 227650 (3)						False	3	0;0;0	1.5	False		ENSG00000187741	ENSG00000187741	HGNC:3582													
FANCB	gene	FANCB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Fanconi anemia, complementation group B, 300514 (3)						False	3	0;0;0	1.5	False		ENSG00000181544	ENSG00000181544	HGNC:3583													
FANCC	gene	FANCC	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group C, 227645 (3)						False	3	0;0;0	1.5	False		ENSG00000158169	ENSG00000158169	HGNC:3584													
FANCD2	gene	FANCD2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group D2, 227646 (3)						False	3	0;0;0	1.5	False		ENSG00000144554	ENSG00000144554	HGNC:3585													
FANCE	gene	FANCE	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group E, 600901 (3)						False	3	0;0;0	1.5	False		ENSG00000112039	ENSG00000112039	HGNC:3586													
FANCF	gene	FANCF	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group F, 603467 (3)						False	3	0;0;0	1.5	False		ENSG00000183161	ENSG00000183161	HGNC:3587													
FANCG	gene	FANCG	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group G, 614082 (3)						False	3	0;0;0	1.5	False		ENSG00000221829	ENSG00000221829	HGNC:3588													
FANCI	gene	FANCI	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group I, 609053 (3)						False	3	0;0;0	1.5	False		ENSG00000140525	ENSG00000140525	HGNC:25568													
FANCL	gene	FANCL	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group L, 614083 (3)						False	3	0;0;0	1.5	False		ENSG00000115392	ENSG00000115392	HGNC:20748													
FAT4	gene	FAT4	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)						False	3	0;0;0	1.5	False		ENSG00000196159	ENSG00000196159	HGNC:23109													
FBP1	gene	FBP1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fructose-1,6-bisphosphatase deficiency, 229700 (3)						False	3	0;0;0	1.5	False		ENSG00000165140	ENSG00000165140	HGNC:3606													
FBXO7	gene	FBXO7	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Parkinson disease 15, autosomal recessive, 260300 (3)						False	3	0;0;0	1.5	False		ENSG00000100225	ENSG00000100225	HGNC:13586													
FH	gene	FH	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fumarase deficiency, 606812 (3)						False	3	0;0;0	1.5	False		ENSG00000091483	ENSG00000091483	HGNC:3700													
FHL1	gene	FHL1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)						False	3	0;0;0	1.5	False		ENSG00000022267	ENSG00000022267	HGNC:3702													
FKBP10	gene	FKBP10	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bruck syndrome 1, 259450 (3)						False	3	0;0;0	1.5	False		ENSG00000141756	ENSG00000141756	HGNC:18169													
FKRP	gene	FKRP	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)						False	3	0;0;0	1.5	False		ENSG00000181027	ENSG00000181027	HGNC:17997													
FKTN	gene	FKTN	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)						False	3	0;0;0	1.5	False		ENSG00000106692	ENSG00000106692	HGNC:3622													
FLNA	gene	FLNA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	FG syndrome 2, 300321 (3)						False	3	0;0;0	1.5	False		ENSG00000196924	ENSG00000196924	HGNC:3754													
FMR1	gene	FMR1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Fragile X syndrome						False	3	0;0;0	1.5	False		ENSG00000102081	ENSG00000102081	HGNC:3775													
FOXN1	gene	FOXN1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)						False	3	0;0;0	1.5	False		ENSG00000109101	ENSG00000109101	HGNC:12765													
FOXRED1	gene	FOXRED1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, 252010 (3)						False	3	0;0;0	1.5	False		ENSG00000110074	ENSG00000110074	HGNC:26927													
FRAS1	gene	FRAS1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fraser syndrome, 219000 (3)						False	3	0;0;0	1.5	False		ENSG00000138759	ENSG00000138759	HGNC:19185													
FREM2	gene	FREM2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fraser syndrome, 219000 (3)						False	3	0;0;0	1.5	False		ENSG00000150893	ENSG00000150893	HGNC:25396													
FTSJ1	gene	FTSJ1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 9, 309549 (3)						False	3	0;0;0	1.5	False		ENSG00000068438	ENSG00000068438	HGNC:13254													
FUCA1	gene	FUCA1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fucosidosis, 230000 (3)						False	3	0;0;0	1.5	False		ENSG00000179163	ENSG00000179163	HGNC:4006													
G6PC	gene	G6PC	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Glycogen storage disease Ia, 232200 (3)						False	3	0;0;0	1.5	False		ENSG00000131482	ENSG00000131482	HGNC:4056													
G6PC3	gene	G6PC3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Dursun syndrome, 612541 (3)						False	3	0;0;0	1.5	False		ENSG00000141349	ENSG00000141349	HGNC:24861													
GAA	gene	GAA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Glycogen storage disease II, 232300 (3)						False	3	0;0;0	1.5	False		ENSG00000171298	ENSG00000171298	HGNC:4065													
GALC	gene	GALC	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Krabbe disease, 245200 (3)						False	3	0;0;0	1.5	False		ENSG00000054983	ENSG00000054983	HGNC:4115													
GALNS	gene	GALNS	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis IVA, 253000 (3)						False	3	0;0;0	1.5	False		ENSG00000141012	ENSG00000141012	HGNC:4122													
GALT	gene	GALT	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Galactosemia, 230400 (3)						False	3	0;0;0	1.5	False		ENSG00000213930	ENSG00000213930	HGNC:4135													
GAMT	gene	GAMT	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cerebral creatine deficiency syndrome 2, 612736 (3)						False	3	0;0;0	1.5	False		ENSG00000130005	ENSG00000130005	HGNC:4136													
GATM	gene	GATM	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cerebral creatine deficiency syndrome 3, 612718 (3)						False	3	0;0;0	1.5	False		ENSG00000171766	ENSG00000171766	HGNC:4175													
GBE1	gene	GBE1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Glycogen storage disease IV, 232500 (3)						False	3	0;0;0	1.5	False		ENSG00000114480	ENSG00000114480	HGNC:4180													
GCDH	gene	GCDH	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Glutaricaciduria, type I, 231670 (3)						False	3	0;0;0	1.5	False		ENSG00000105607	ENSG00000105607	HGNC:4189													
GCH1	gene	GCH1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)						False	3	0;0;0	1.5	False		ENSG00000131979	ENSG00000131979	HGNC:4193													
GDAP1	gene	GDAP1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)						False	3	0;0;0	1.5	False		ENSG00000104381	ENSG00000104381	HGNC:15968													
GDF1	gene	GDF1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Right atrial isomerism, 208530 (3)						False	3	0;0;0	1.5	False		ENSG00000130283	ENSG00000130283	HGNC:4214													
GDF5	gene	GDF5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Chondrodysplasia, Grebe type, 200700 (3)						False	3	0;0;0	1.5	False		ENSG00000125965	ENSG00000125965	HGNC:4220													
GFM1	gene	GFM1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 1, 609060 (3)						False	3	0;0;0	1.5	False		ENSG00000168827	ENSG00000168827	HGNC:13780													
GHR	gene	GHR	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Laron dwarfism, 262500 (3)						False	3	0;0;0	1.5	False		ENSG00000112964	ENSG00000112964	HGNC:4263													
GJB1	gene	GJB1	Expert Review Green;Literature	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	"Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	(MIM#302800)"						False	3	0;0;0	1.5	False		ENSG00000169562	ENSG00000169562	HGNC:4283													
GLA	gene	GLA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Fabry disease, MIM#301500				29649853;20301469		False	3	0;0;0	1.5	False		ENSG00000102393	ENSG00000102393	HGNC:4296													
GLB1	gene	GLB1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type IVB (Morquio), 253010 (3)						False	3	0;0;0	1.5	False		ENSG00000170266	ENSG00000170266	HGNC:4298													
GLDC	gene	GLDC	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Glycine encephalopathy, 605899 (3)						False	3	0;0;0	1.5	False		ENSG00000178445	ENSG00000178445	HGNC:4313													
GLE1	gene	GLE1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3)						False	3	0;0;0	1.5	False		ENSG00000119392	ENSG00000119392	HGNC:4315													
GNB5	gene	GNB5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive						False	3	0;0;0	1.5	False		ENSG00000069966	ENSG00000069966	HGNC:4401													
GNE	gene	GNE	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Inclusion body myopathy, autosomal recessive, 600737 (3)						False	3	0;0;0	1.5	False		ENSG00000159921	ENSG00000159921	HGNC:23657													
GNPAT	gene	GNPAT	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3)						False	3	0;0;0	1.5	False		ENSG00000116906	ENSG00000116906	HGNC:4416													
GNPTAB	gene	GNPTAB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mucolipidosis III alpha/beta, 252600 (3)						False	3	0;0;0	1.5	False		ENSG00000111670	ENSG00000111670	HGNC:29670													
GNPTG	gene	GNPTG	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mucolipidosis III gamma, 252605 (3)						False	3	0;0;0	1.5	False		ENSG00000090581	ENSG00000090581	HGNC:23026													
GNS	gene	GNS	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type IIID, 252940 (3)						False	3	0;0;0	1.5	False		ENSG00000135677	ENSG00000135677	HGNC:4422													
GORAB	gene	GORAB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Geroderma osteodysplasticum, 231070 (3)						False	3	0;0;0	1.5	False		ENSG00000120370	ENSG00000120370	HGNC:25676													
GPC3	gene	GPC3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)						False	3	0;0;0	1.5	False		ENSG00000147257	ENSG00000147257	HGNC:4451													
GPR143	gene	GPR143	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Ocular albinism, type I, Nettleship-Falls type, 300500 (3)						False	3	0;0;0	1.5	False		ENSG00000101850	ENSG00000101850	HGNC:20145													
GPSM2	gene	GPSM2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Chudley-McCullough syndrome, 604213 (3)						False	3	0;0;0	1.5	False		ENSG00000121957	ENSG00000121957	HGNC:29501													
GSS	gene	GSS	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Glutathione synthetase deficiency, 266130 (3)						False	3	0;0;0	1.5	False		ENSG00000100983	ENSG00000100983	HGNC:4624													
GUCY2D	gene	GUCY2D	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leber congenital amaurosis 1, 204000 (3)						False	3	0;0;0	1.5	False		ENSG00000132518	ENSG00000132518	HGNC:4689													
GUSB	gene	GUSB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis VII, 253220 (3)						False	3	0;0;0	1.5	False		ENSG00000169919	ENSG00000169919	HGNC:4696													
HADH	gene	HADH	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3)						False	3	0;0;0	1.5	False		ENSG00000138796	ENSG00000138796	HGNC:4799													
HADHA	gene	HADHA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fatty liver, acute, of pregnancy, 609016 (3)						False	3	0;0;0	1.5	False		ENSG00000084754	ENSG00000084754	HGNC:4801													
HADHB	gene	HADHB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Trifunctional protein deficiency, 609015 (3)						False	3	0;0;0	1.5	False		ENSG00000138029	ENSG00000138029	HGNC:4803													
HAMP	gene	HAMP	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hemochromatosis, type 2B, 613313 (3)						False	3	0;0;0	1.5	False		ENSG00000105697	ENSG00000105697	HGNC:15598													
HAX1	gene	HAX1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)						False	3	0;0;0	1.5	False		ENSG00000143575	ENSG00000143575	HGNC:16915													
HBB	gene	HBB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Thalassemias, beta-, 613985 (3)						False	3	0;0;0	1.5	False		ENSG00000244734	ENSG00000244734	HGNC:4827													
HCFC1	gene	HCFC1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)						False	3	0;0;0	1.5	False		ENSG00000172534	ENSG00000172534	HGNC:4839													
HEXA	gene	HEXA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Tay-Sachs disease, 272800 (3)						False	3	0;0;0	1.5	False		ENSG00000213614	ENSG00000213614	HGNC:4878													
HEXB	gene	HEXB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)						False	3	0;0;0	1.5	False		ENSG00000049860	ENSG00000049860	HGNC:4879													
HFE2	gene	HFE2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hemochromatosis, type 2A, 602390 (3)						False	3	0;0;0	1.5	False		ENSG00000168509	ENSG00000168509	HGNC:4887													
HGSNAT	gene	HGSNAT	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)						False	3	0;0;0	1.5	False		ENSG00000165102	ENSG00000165102	HGNC:26527													
HIBCH	gene	HIBCH	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)						False	3	0;0;0	1.5	False		ENSG00000198130	ENSG00000198130	HGNC:4908													
HLCS	gene	HLCS	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Holocarboxylase synthetase deficiency, 253270 (3)						False	3	0;0;0	1.5	False		ENSG00000159267	ENSG00000159267	HGNC:4976													
HMGCL	gene	HMGCL	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	HMG-CoA lyase deficiency, 246450 (3)						False	3	0;0;0	1.5	False		ENSG00000117305	ENSG00000117305	HGNC:5005													
HMGCS2	gene	HMGCS2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	HMG-CoA synthase-2 deficiency, 605911 (3)						False	3	0;0;0	1.5	False		ENSG00000134240	ENSG00000134240	HGNC:5008													
HPD	gene	HPD	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Tyrosinemia, type III, 276710 (3)						False	3	0;0;0	1.5	False		ENSG00000158104	ENSG00000158104	HGNC:5147													
HPRT1	gene	HPRT1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lesch-Nyhan syndrome, 300322 (3)						False	3	0;0;0	1.5	False		ENSG00000165704	ENSG00000165704	HGNC:5157													
HPS1	gene	HPS1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 1, 203300 (3)						False	3	0;0;0	1.5	False		ENSG00000107521	ENSG00000107521	HGNC:5163													
HPS3	gene	HPS3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 3, 614072 (3)						False	3	0;0;0	1.5	False		ENSG00000163755	ENSG00000163755	HGNC:15597													
HPS4	gene	HPS4	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 4, 614073 (3)						False	3	0;0;0	1.5	False		ENSG00000100099	ENSG00000100099	HGNC:15844													
HPS5	gene	HPS5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 5, 614074 (3)						False	3	0;0;0	1.5	False		ENSG00000110756	ENSG00000110756	HGNC:17022													
HPS6	gene	HPS6	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hermansky-Pudlak syndrome 6, 614075 (3)						False	3	0;0;0	1.5	False		ENSG00000166189	ENSG00000166189	HGNC:18817													
HSD17B10	gene	HSD17B10	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	HSD10 mitochondrial disease						False	3	0;0;0	1.5	False		ENSG00000072506	ENSG00000072506	HGNC:4800													
HSD17B4	gene	HSD17B4	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	D-bifunctional protein deficiency, 261515 (3)						False	3	0;0;0	1.5	False		ENSG00000133835	ENSG00000133835	HGNC:5213													
HSD3B2	gene	HSD3B2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3)						False	3	0;0;0	1.5	False		ENSG00000203859	ENSG00000203859	HGNC:5218													
HUWE1	gene	HUWE1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked syndromic, Turner type, 300706 (3)						False	3	0;0;0	1.5	False		ENSG00000086758	ENSG00000086758	HGNC:30892													
HYLS1	gene	HYLS1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hydrolethalus syndrome, 236680 (3)						False	3	0;0;0	1.5	False		ENSG00000198331	ENSG00000198331	HGNC:26558													
IDS	gene	IDS	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mucopolysaccharidosis II, 309900 (3)						False	3	0;0;0	1.5	False		ENSG00000010404	ENSG00000010404	HGNC:5389													
IDUA	gene	IDUA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis Ih, 607014 (3)						False	3	0;0;0	1.5	False		ENSG00000127415	ENSG00000127415	HGNC:5391													
IGHMBP2	gene	IGHMBP2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Neuronopathy, distal hereditary motor, type VI, 604320 (3)						False	3	0;0;0	1.5	False		ENSG00000132740	ENSG00000132740	HGNC:5542													
IKBKB	gene	IKBKB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 15, 615592 (3)						False	3	0;0;0	1.5	False		ENSG00000104365	ENSG00000104365	HGNC:5960													
IL1RAPL1	gene	IL1RAPL1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 21/34, 300143 (3)						False	3	0;0;0	1.5	False		ENSG00000169306	ENSG00000169306	HGNC:5996													
IL2RG	gene	IL2RG	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Severe combined immunodeficiency, X-linked, 300400 (3)						False	3	0;0;0	1.5	False		ENSG00000147168	ENSG00000147168	HGNC:6010													
IL7R	gene	IL7R	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	severe combined immunodeficiency 104 MIM#608971						False	3	0;0;0	1.5	False		ENSG00000168685	ENSG00000168685	HGNC:6024													
INPP5E	gene	INPP5E	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 1, 213300 (3)						False	3	0;0;0	1.5	False		ENSG00000148384	ENSG00000148384	HGNC:21474													
INVS	gene	INVS	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 2, infantile, 602088 (3)						False	3	0;0;0	1.5	False		ENSG00000119509	ENSG00000119509	HGNC:17870													
IQSEC2	gene	IQSEC2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	"Intellectual developmental disorder, X-linked 1	MIM#309530"						False	3	0;0;0	1.5	False		ENSG00000124313	ENSG00000124313	HGNC:29059													
ITGA6	gene	ITGA6	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)				27607025;31502654;20301336;9158140;34525201		False	3	0;0;0	1.5	False		ENSG00000091409	ENSG00000091409	HGNC:6142													
ITGB4	gene	ITGB4	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)						False	3	0;0;0	1.5	False		ENSG00000132470	ENSG00000132470	HGNC:6158													
ITPR1	gene	ITPR1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Gillespie syndrome, 206700 (3), Autosomal recessive						False	3	0;0;0	1.5	False		ENSG00000150995	ENSG00000150995	HGNC:6180													
IVD	gene	IVD	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Isovaleric acidemia, 243500 (3)						False	3	0;0;0	1.5	False		ENSG00000128928	ENSG00000128928	HGNC:6186													
JAK3	gene	JAK3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)						False	3	0;0;0	1.5	False		ENSG00000105639	ENSG00000105639	HGNC:6193													
KATNB1	gene	KATNB1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Lissencephaly 6, with microcephaly, 616212 (3)						False	3	0;0;0	1.5	False		ENSG00000140854	ENSG00000140854	HGNC:6217													
KCNJ1	gene	KCNJ1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bartter syndrome, type 2, 241200 (3)						False	3	0;0;0	1.5	False		ENSG00000151704	ENSG00000151704	HGNC:6255													
KCNJ11	gene	KCNJ11	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)						False	3	0;0;0	1.5	False		ENSG00000187486	ENSG00000187486	HGNC:6257													
KCNQ1	gene	KCNQ1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Jervell and Lange-Nielsen syndrome, 220400 (3)				29033053;28438721		False	3	0;0;0	1.5	False		ENSG00000053918	ENSG00000053918	HGNC:6294													
KDM5C	gene	KDM5C	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)						False	3	0;0;0	1.5	False		ENSG00000126012	ENSG00000126012	HGNC:11114													
KIF1A	gene	KIF1A	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 30, autosomal recessive, 610357 (3)						False	3	0;0;0	1.5	False		ENSG00000130294	ENSG00000130294	HGNC:888													
KIF7	gene	KIF7	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hydrolethalus syndrome 2, 614120 (3)						False	3	0;0;0	1.5	False		ENSG00000166813	ENSG00000166813	HGNC:30497													
KRT14	gene	KRT14	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Epidermolysis bullosa simplex, recessive 1, 601001 (3)						False	3	0;0;0	1.5	False		ENSG00000186847	ENSG00000186847	HGNC:6416													
L1CAM	gene	L1CAM	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	MASA syndrome, 303350 (3)						False	3	0;0;0	1.5	False		ENSG00000198910	ENSG00000198910	HGNC:6470													
L2HGDH	gene	L2HGDH	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	L-2-hydroxyglutaric aciduria, 236792 (3)						False	3	0;0;0	1.5	False		ENSG00000087299	ENSG00000087299	HGNC:20499													
LAMA2	gene	LAMA2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, congenital merosin-deficient, 607855 (3)						False	3	0;0;0	1.5	False		ENSG00000196569	ENSG00000196569	HGNC:6482													
LAMA3	gene	LAMA3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)						False	3	0;0;0	1.5	False		ENSG00000053747	ENSG00000053747	HGNC:6483													
LAMB1	gene	LAMB1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Lissencephaly 5, 615191 (3)						False	3	0;0;0	1.5	False		ENSG00000091136	ENSG00000091136	HGNC:6486													
LAMB2	gene	LAMB2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pierson syndrome, 609049 (3)						False	3	0;0;0	1.5	False		ENSG00000172037	ENSG00000172037	HGNC:6487													
LAMB3	gene	LAMB3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)						False	3	0;0;0	1.5	False		ENSG00000196878	ENSG00000196878	HGNC:6490													
LAMC2	gene	LAMC2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)						False	3	0;0;0	1.5	False		ENSG00000058085	ENSG00000058085	HGNC:6493													
LARGE1	gene	LARGE1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)						False	3	0;0;0	1.5	False		ENSG00000133424	ENSG00000133424	HGNC:6511													
LARS	gene	LARS	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Infantile liver failure syndrome 1, MIM# 615438						False	3	0;0;0	1.5	False		ENSG00000133706	ENSG00000133706	HGNC:6512													
LCA5	gene	LCA5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leber congenital amaurosis 5, 604537 (3)						False	3	0;0;0	1.5	False		ENSG00000135338	ENSG00000135338	HGNC:31923													
LDLR	gene	LDLR	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	LDL cholesterol level QTL2/Hypercholesterolemia, familial						False	3	0;0;0	1.5	False		ENSG00000130164	ENSG00000130164	HGNC:6547													
LDLRAP1	gene	LDLRAP1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypercholesterolemia, familial, autosomal recessive, 603813 (3)						False	3	0;0;0	1.5	False		ENSG00000157978	ENSG00000157978	HGNC:18640													
LHX3	gene	LHX3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pituitary hormone deficiency, combined, 3, 221750 (3)						False	3	0;0;0	1.5	False		ENSG00000107187	ENSG00000107187	HGNC:6595													
LIFR	gene	LIFR	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)						False	3	0;0;0	1.5	False		ENSG00000113594	ENSG00000113594	HGNC:6597													
LIG4	gene	LIG4	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	LIG4 syndrome, 606593 (3)						False	3	100;0;0	1.5	False		ENSG00000174405	ENSG00000174405	HGNC:6601													
LIPA	gene	LIPA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cholesteryl ester storage disease, 278000 (3)						False	3	0;0;0	1.5	False		ENSG00000107798	ENSG00000107798	HGNC:6617													
LMBRD1	gene	LMBRD1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)						False	3	0;0;0	1.5	False		ENSG00000168216	ENSG00000168216	HGNC:23038													
LMNA	gene	LMNA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Restrictive dermopathy, lethal, 275210 (3)				18551513;17377071;15148145		False	3	0;0;0	1.5	False		ENSG00000160789	ENSG00000160789	HGNC:6636													
LPL	gene	LPL	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Lipoprotein lipase deficiency, 238600 (3)						False	3	0;0;0	1.5	False		ENSG00000175445	ENSG00000175445	HGNC:6677													
LRAT	gene	LRAT	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leber congenital amaurosis 14, 613341 (3)						False	3	0;0;0	1.5	False		ENSG00000121207	ENSG00000121207	HGNC:6685													
LRP2	gene	LRP2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Donnai-Barrow syndrome, 222448 (3)						False	3	0;0;0	1.5	False		ENSG00000081479	ENSG00000081479	HGNC:6694													
LRPPRC	gene	LRPPRC	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome, French-Canadian type, 220111 (3)						False	3	0;0;0	1.5	False		ENSG00000138095	ENSG00000138095	HGNC:15714													
LYST	gene	LYST	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Chediak-Higashi syndrome, 214500 (3)						False	3	0;0;0	1.5	False		ENSG00000143669	ENSG00000143669	HGNC:1968													
LZTFL1	gene	LZTFL1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 17, 615994 (3)						False	3	0;0;0	1.5	False		ENSG00000163818	ENSG00000163818	HGNC:6741													
MAN2B1	gene	MAN2B1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mannosidosis, alpha-, types I and II, 248500 (3)						False	3	0;0;0	1.5	False		ENSG00000104774	ENSG00000104774	HGNC:6826													
MANBA	gene	MANBA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mannosidosis, beta, 248510 (3)						False	3	0;0;0	1.5	False		ENSG00000109323	ENSG00000109323	HGNC:6831													
MASP1	gene	MASP1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	3MC syndrome 1, 257920 (3)						False	3	0;0;0	1.5	False		ENSG00000127241	ENSG00000127241	HGNC:6901													
MCOLN1	gene	MCOLN1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mucolipidosis IV, 252650 (3)						False	3	0;0;0	1.5	False		ENSG00000090674	ENSG00000090674	HGNC:13356													
MCPH1	gene	MCPH1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 1, primary, autosomal recessive, 251200 (3)						False	3	0;0;0	1.5	False		ENSG00000147316	ENSG00000147316	HGNC:6954													
MECP2	gene	MECP2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Encephalopathy, neonatal severe, 300673 (3)						False	3	0;0;0	1.5	False		ENSG00000169057	ENSG00000169057	HGNC:6990													
MED12	gene	MED12	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lujan-Fryns syndrome, 309520 (3)						False	3	0;0;0	1.5	False		ENSG00000184634	ENSG00000184634	HGNC:11957													
MED17	gene	MED17	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)						False	3	0;0;0	1.5	False		ENSG00000042429	ENSG00000042429	HGNC:2375													
MESP2	gene	MESP2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)						False	3	0;0;0	1.5	False		ENSG00000188095	ENSG00000188095	HGNC:29659													
METTL23	gene	METTL23	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, autosomal recessive 44, 615942 (3)						False	3	0;0;0	1.5	False		ENSG00000181038	ENSG00000181038	HGNC:26988													
MFN2	gene	MFN2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive						False	3	0;0;0	1.5	False		ENSG00000116688	ENSG00000116688	HGNC:16877													
MFSD8	gene	MFSD8	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 7, 610951 (3)						False	3	0;0;0	1.5	False		ENSG00000164073	ENSG00000164073	HGNC:28486													
MID1	gene	MID1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Opitz GBBB syndrome, type I, 300000 (3)						False	3	0;0;0	1.5	False		ENSG00000101871	ENSG00000101871	HGNC:7095													
MKKS	gene	MKKS	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	McKusick-Kaufman syndrome, 236700 (3)						False	3	0;0;0	1.5	False		ENSG00000125863	ENSG00000125863	HGNC:7108													
MKS1	gene	MKS1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 1, 249000 (3)						False	3	0;0;0	1.5	False		ENSG00000011143	ENSG00000011143	HGNC:7121													
MLC1	gene	MLC1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)						False	3	0;0;0	1.5	False		ENSG00000100427	ENSG00000100427	HGNC:17082													
MLYCD	gene	MLYCD	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Malonyl-CoA decarboxylase deficiency, 248360 (3)						False	3	0;0;0	1.5	False		ENSG00000103150	ENSG00000103150	HGNC:7150													
MMAA	gene	MMAA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)						False	3	0;0;0	1.5	False		ENSG00000151611	ENSG00000151611	HGNC:18871													
MMAB	gene	MMAB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)						False	3	0;0;0	1.5	False		ENSG00000139428	ENSG00000139428	HGNC:19331													
MMACHC	gene	MMACHC	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)						False	3	0;0;0	1.5	False		ENSG00000132763	ENSG00000132763	HGNC:24525													
MMADHC	gene	MMADHC	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)						False	3	0;0;0	1.5	False		ENSG00000168288	ENSG00000168288	HGNC:25221													
MOCS1	gene	MOCS1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Molybdenum cofactor deficiency A, 252150 (3)						False	3	0;0;0	1.5	False		ENSG00000124615	ENSG00000124615	HGNC:7190													
MOCS2	gene	MOCS2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Molybdenum cofactor deficiency B, 252160 (3)						False	3	0;0;0	1.5	False		ENSG00000164172	ENSG00000164172	HGNC:7193													
MPI	gene	MPI	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ib, 602579 (3)						False	3	0;0;0	1.5	False		ENSG00000178802	ENSG00000178802	HGNC:7216													
MPL	gene	MPL	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Thrombocytopenia, congenital amegakaryocytic, 604498 (3)						False	3	0;0;0	1.5	False		ENSG00000117400	ENSG00000117400	HGNC:7217													
MPV17	gene	MPV17	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)						False	3	0;0;0	1.5	False		ENSG00000115204	ENSG00000115204	HGNC:7224													
MRE11	gene	MRE11	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ataxia-telangiectasia-like disorder, 604391 (3)						False	3	0;0;0	1.5	False		ENSG00000020922	ENSG00000020922	HGNC:7230													
MTFMT	gene	MTFMT	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 15, 614947 (3)						False	3	0;0;0	1.5	False		ENSG00000103707	ENSG00000103707	HGNC:29666													
MTHFR	gene	MTHFR	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Homocystinuria due to MTHFR deficiency, 236250 (3)						False	3	0;0;0	1.5	False		ENSG00000177000	ENSG00000177000	HGNC:7436													
MTM1	gene	MTM1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Myotubular myopathy, X-linked, 310400 (3)						False	3	0;0;0	1.5	False		ENSG00000171100	ENSG00000171100	HGNC:7448													
MTMR2	gene	MTMR2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, type 4B1, 601382 (3)						False	3	0;0;0	1.5	False		ENSG00000087053	ENSG00000087053	HGNC:7450													
MTR	gene	MTR	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)						False	3	0;0;0	1.5	False		ENSG00000116984	ENSG00000116984	HGNC:7468													
MTRR	gene	MTRR	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)						False	3	0;0;0	1.5	False		ENSG00000124275	ENSG00000124275	HGNC:7473													
MTTP	gene	MTTP	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Abetalipoproteinemia, 200100 (3)						False	3	0;0;0	1.5	False		ENSG00000138823	ENSG00000138823	HGNC:7467													
MUSK	gene	MUSK	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)						False	3	0;0;0	1.5	False		ENSG00000030304	ENSG00000030304	HGNC:7525													
MUT	gene	MUT	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Methylmalonic aciduria, mut(0) type, 251000 (3)						False	3	0;0;0	1.5	False		ENSG00000146085	ENSG00000146085	HGNC:7526													
MVK	gene	MVK	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mevalonic aciduria, 610377 (3)						False	3	0;0;0	1.5	False		ENSG00000110921	ENSG00000110921	HGNC:7530													
MYO5B	gene	MYO5B	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Microvillus inclusion disease, 251850 (3)						False	3	0;0;0	1.5	False		ENSG00000167306	ENSG00000167306	HGNC:7603													
MYO7A	gene	MYO7A	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type 1B, 276900 (3)						False	3	0;0;0	1.5	False		ENSG00000137474	ENSG00000137474	HGNC:7606													
NAGA	gene	NAGA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Schindler disease, type I, 609241 (3)						False	3	0;0;0	1.5	False		ENSG00000198951	ENSG00000198951	HGNC:7631													
NAGLU	gene	NAGLU	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)						False	3	0;0;0	1.5	False		ENSG00000108784	ENSG00000108784	HGNC:7632													
NAGS	gene	NAGS	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	N-acetylglutamate synthase deficiency, 237310 (3)						False	3	0;0;0	1.5	False		ENSG00000161653	ENSG00000161653	HGNC:17996													
NALCN	gene	NALCN	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3)						False	3	0;0;0	1.5	False		ENSG00000102452	ENSG00000102452	HGNC:19082													
NARS2	gene	NARS2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 24, 616239 (3)						False	3	0;0;0	1.5	False		ENSG00000137513	ENSG00000137513	HGNC:26274													
NBN	gene	NBN	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Nijmegen breakage syndrome, 251260 (3)						False	3	0;0;0	1.5	False		ENSG00000104320	ENSG00000104320	HGNC:7652													
NCF2	gene	NCF2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)						False	3	0;0;0	1.5	False		ENSG00000116701	ENSG00000116701	HGNC:7661													
NDE1	gene	NDE1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Lissencephaly 4 (with microcephaly), 614019 (3)						False	3	0;0;0	1.5	False		ENSG00000072864	ENSG00000072864	HGNC:17619													
NDP	gene	NDP	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Norrie disease, 310600 (3)						False	3	0;0;0	1.5	False		ENSG00000124479	ENSG00000124479	HGNC:7678													
NDRG1	gene	NDRG1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, type 4D, 601455 (3)						False	3	0;0;0	1.5	False		ENSG00000104419	ENSG00000104419	HGNC:7679													
NDUFAF2	gene	NDUFAF2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome, 256000 (3)						False	3	0;0;0	1.5	False		ENSG00000164182	ENSG00000164182	HGNC:28086													
NDUFAF5	gene	NDUFAF5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex 1 deficiency, 252010 (3)						False	3	0;0;0	1.5	False		ENSG00000101247	ENSG00000101247	HGNC:15899													
NDUFS4	gene	NDUFS4	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome, 256000 (3)						False	3	0;0;0	1.5	False		ENSG00000164258	ENSG00000164258	HGNC:7711													
NDUFS6	gene	NDUFS6	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, 252010 (3)						False	3	0;0;0	1.5	False		ENSG00000145494	ENSG00000145494	HGNC:7713													
NDUFS7	gene	NDUFS7	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome, 256000 (3)						False	3	0;0;0	1.5	False		ENSG00000115286	ENSG00000115286	HGNC:7714													
NDUFV1	gene	NDUFV1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, 252010 (3)						False	3	0;0;0	1.5	False		ENSG00000167792	ENSG00000167792	HGNC:7716													
NEB	gene	NEB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis multiplex congenita 6 (MIM#619334);Nemaline myopathy 2, autosomal recessive (MIM#256030)				27228465		False	3	0;0;0	1.5	False		ENSG00000183091	ENSG00000183091	HGNC:7720													
NEU1	gene	NEU1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Sialidosis, type I, 256550 (3)						False	3	0;0;0	1.5	False		ENSG00000204386	ENSG00000204386	HGNC:7758													
NGLY1	gene	NGLY1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of deglycosylation, 615273 (3)						False	3	0;0;0	1.5	False		ENSG00000151092	ENSG00000151092	HGNC:17646													
NNT	gene	NNT	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Glucocorticoid deficiency 4, 614736 (3)						False	3	0;0;0	1.5	False		ENSG00000112992	ENSG00000112992	HGNC:7863													
NPC1	gene	NPC1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Niemann-Pick disease, type C1, MIM#257220				11333381;26910362		False	3	0;0;0	1.5	False		ENSG00000141458	ENSG00000141458	HGNC:7897													
NPC2	gene	NPC2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Niemann-pick disease, type C2, MIM#607625				29625568;17470133		False	3	0;0;0	1.5	False		ENSG00000119655	ENSG00000119655	HGNC:14537													
NPHP1	gene	NPHP1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 4, 609583 (3)						False	3	0;0;0	1.5	False		ENSG00000144061	ENSG00000144061	HGNC:7905													
NPHP3	gene	NPHP3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 7, 267010 (3)						False	3	0;0;0	1.5	False		ENSG00000113971	ENSG00000113971	HGNC:7907													
NPHS1	gene	NPHS1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome, type 1, 256300 (3)						False	3	0;0;0	1.5	False		ENSG00000161270	ENSG00000161270	HGNC:7908													
NPHS2	gene	NPHS2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Nephrotic syndrome, type 2, 600995 (3)						False	3	0;0;0	1.5	False		ENSG00000116218	ENSG00000116218	HGNC:13394													
NR0B1	gene	NR0B1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	46XY sex reversal 2, dosage-sensitive, 300018 (3)						False	3	0;0;0	1.5	False		ENSG00000169297	ENSG00000169297	HGNC:7960													
NTRK1	gene	NTRK1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Insensitivity to pain, congenital, with anhidrosis, 256800 (3)						False	3	0;0;0	1.5	False		ENSG00000198400	ENSG00000198400	HGNC:8031													
OCRL	gene	OCRL	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lowe syndrome, 309000 (3)						False	3	0;0;0	1.5	False		ENSG00000122126	ENSG00000122126	HGNC:8108													
OFD1	gene	OFD1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Joubert syndrome 10, 300804 (3)						False	3	0;0;0	1.5	False		ENSG00000046651	ENSG00000046651	HGNC:2567													
OPA1	gene	OPA1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Behr syndrome, 210000 (3), Autosomal recessive						False	3	0;0;0	1.5	False		ENSG00000198836	ENSG00000198836	HGNC:8140													
OPA3	gene	OPA3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	3-methylglutaconic aciduria, type III, 258501 (3)						False	3	0;0;0	1.5	False		ENSG00000125741	ENSG00000125741	HGNC:8142													
OPHN1	gene	OPHN1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)						False	3	0;0;0	1.5	False		ENSG00000079482	ENSG00000079482	HGNC:8148													
OSGEP	gene	OSGEP	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive						False	3	0;0;0	1.5	False		ENSG00000092094	ENSG00000092094	HGNC:18028													
OSTM1	gene	OSTM1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteopetrosis, autosomal recessive 5, 259720 (3)						False	3	0;0;0	1.5	False		ENSG00000081087	ENSG00000081087	HGNC:21652													
OTC	gene	OTC	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Ornithine transcarbamylase deficiency, 311250 (3)						False	3	0;0;0	1.5	False		ENSG00000036473	ENSG00000036473	HGNC:8512													
P3H1	gene	P3H1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, type VIII, 610915 (3)						False	3	0;0;0	1.5	False		ENSG00000117385	ENSG00000117385	HGNC:19316													
PAH	gene	PAH	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Phenylketonuria, 261600 (3)						False	3	0;0;0	1.5	False		ENSG00000171759	ENSG00000171759	HGNC:8582													
PAK3	gene	PAK3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 30/47, 300558 (3)						False	3	0;0;0	1.5	False		ENSG00000077264	ENSG00000077264	HGNC:8592													
PANK2	gene	PANK2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration with brain iron accumulation 1, MIM#234200				15911822		False	3	0;0;0	1.5	False		ENSG00000125779	ENSG00000125779	HGNC:15894													
PC	gene	PC	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pyruvate carboxylase deficiency, 266150 (3)						False	3	0;0;0	1.5	False		ENSG00000173599	ENSG00000173599	HGNC:8636													
PCCA	gene	PCCA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Propionicacidemia, 606054 (3)						False	3	0;0;0	1.5	False		ENSG00000175198	ENSG00000175198	HGNC:8653													
PCCB	gene	PCCB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Propionicacidemia, 606054 (3)						False	3	0;0;0	1.5	False		ENSG00000114054	ENSG00000114054	HGNC:8654													
PCDH15	gene	PCDH15	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type 1F, 602083 (3)						False	3	0;0;0	1.5	False		ENSG00000150275	ENSG00000150275	HGNC:14674													
PCDH19	gene	PCDH19	Expert Review Green;Literature	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Developmental and epileptic encephalopathy 9 (MIM#300088)				18469813;30287595		False	3	0;0;0	1.5	False		ENSG00000165194	ENSG00000165194	HGNC:14270													
PCNT	gene	PCNT	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)						False	3	0;0;0	1.5	False		ENSG00000160299	ENSG00000160299	HGNC:16068													
PDHA1	gene	PDHA1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170)				28584645;22142326		False	3	0;0;0	1.5	False		ENSG00000131828	ENSG00000131828	HGNC:8806													
PDHB	gene	PDHB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)						False	3	0;0;0	1.5	False		ENSG00000168291	ENSG00000168291	HGNC:8808													
PEPD	gene	PEPD	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Prolidase deficiency, 170100 (3)						False	3	0;0;0	1.5	False		ENSG00000124299	ENSG00000124299	HGNC:8840													
PET100	gene	PET100	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex IV deficiency, 220110 (3)						False	3	0;0;0	1.5	False		ENSG00000229833	ENSG00000229833	HGNC:40038													
PEX1	gene	PEX1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 1A (Zellweger), 214100						False	3	0;0;0	1.5	False		ENSG00000127980	ENSG00000127980	HGNC:8850													
PEX10	gene	PEX10	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 6A (Zellweger), 614870						False	3	0;0;0	1.5	False		ENSG00000157911	ENSG00000157911	HGNC:8851													
PEX12	gene	PEX12	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 3A (Zellweger), 614859						False	3	0;0;0	1.5	False		ENSG00000108733	ENSG00000108733	HGNC:8854													
PEX13	gene	PEX13	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 11A (Zellweger), 614883						False	3	0;0;0	1.5	False		ENSG00000162928	ENSG00000162928	HGNC:8855													
PEX16	gene	PEX16	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 8A, (Zellweger), 614876						False	3	0;0;0	1.5	False		ENSG00000121680	ENSG00000121680	HGNC:8857													
PEX2	gene	PEX2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 5A (Zellweger), 614866						False	3	0;0;0	1.5	False		ENSG00000164751	ENSG00000164751	HGNC:9717													
PEX26	gene	PEX26	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 7A (Zellweger), 614872						False	3	0;0;0	1.5	False		ENSG00000215193	ENSG00000215193	HGNC:22965													
PEX5	gene	PEX5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 2A (Zellweger), 214110						False	3	0;0;0	1.5	False		ENSG00000139197	ENSG00000139197	HGNC:9719													
PEX6	gene	PEX6	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 4A (Zellweger), 614862						False	3	0;0;0	1.5	False		ENSG00000124587	ENSG00000124587	HGNC:8859													
PEX7	gene	PEX7	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3)						False	3	0;0;0	1.5	False		ENSG00000112357	ENSG00000112357	HGNC:8860													
PFKM	gene	PFKM	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Glycogen storage disease VII, 232800 (3)						False	3	0;0;0	1.5	False		ENSG00000152556	ENSG00000152556	HGNC:8877													
PGAP2	gene	PGAP2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)						False	3	0;0;0	1.5	False		ENSG00000148985	ENSG00000148985	HGNC:17893													
PGK1	gene	PGK1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phosphoglycerate kinase 1 deficiency, 300653 (3)				28580215;16567715;22348148;30887539		False	3	0;0;0	1.5	False		ENSG00000102144	ENSG00000102144	HGNC:8896													
PGM1	gene	PGM1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type It, 614921 (3)						False	3	0;0;0	1.5	False		ENSG00000079739	ENSG00000079739	HGNC:8905													
PGM3	gene	PGM3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 23, 615816 (3)						False	3	0;0;0	1.5	False		ENSG00000013375	ENSG00000013375	HGNC:8907													
PHF8	gene	PHF8	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation syndrome, X-linked, Siderius type, 300263 (3)						False	3	0;0;0	1.5	False		ENSG00000172943	ENSG00000172943	HGNC:20672													
PHGDH	gene	PHGDH	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Neu-Laxova syndrome1, 256520 (3)						False	3	0;0;0	1.5	False		ENSG00000092621	ENSG00000092621	HGNC:8923													
PHYH	gene	PHYH	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Refsum disease, 266500 (3)						False	3	0;0;0	1.5	False		ENSG00000107537	ENSG00000107537	HGNC:8940													
PIBF1	gene	PIBF1	Expert Review Green;Literature	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 33 (MIM#617767)				26167768;30858804;29695797;33004012		False	3	0;0;0	1.5	False		ENSG00000083535	ENSG00000083535	HGNC:23352													
PIGG	gene	PIGG	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	"Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy	MIM#616917"						False	3	0;0;0	1.5	False		ENSG00000174227	ENSG00000174227	HGNC:25985													
PIGN	gene	PIGN	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)						False	3	0;0;0	1.5	False		ENSG00000197563	ENSG00000197563	HGNC:8967													
PIGT	gene	PIGT	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Multiple congenital anomalies-hypotonia-seizures syndrome 3						False	3	0;0;0	1.5	False		ENSG00000124155	ENSG00000124155	HGNC:14938													
PKHD1	gene	PKHD1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Polycystic kidney and hepatic disease, 263200 (3)						False	3	0;0;0	1.5	False		ENSG00000170927	ENSG00000170927	HGNC:9016													
PLA2G6	gene	PLA2G6	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration with brain iron accumulation 2B MIM#610217;Infantile neuroaxonal dystrophy 1 MIM#256600				35803092		False	3	0;0;0	1.5	False		ENSG00000184381	ENSG00000184381	HGNC:9039													
PLOD1	gene	PLOD1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, type VI, 225400 (3)						False	3	0;0;0	1.5	False		ENSG00000083444	ENSG00000083444	HGNC:9081													
PLP1	gene	PLP1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Pelizaeus-Merzbacher disease, 312080 (3)						False	3	0;0;0	1.5	False		ENSG00000123560	ENSG00000123560	HGNC:9086													
PLPBP	gene	PLPBP	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive						False	3	0;0;0	1.5	False		ENSG00000147471	ENSG00000147471	HGNC:9457													
PMM2	gene	PMM2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ia, 212065 (3)						False	3	0;0;0	1.5	False		ENSG00000140650	ENSG00000140650	HGNC:9115													
PNKP	gene	PNKP	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, seizures, and developmental delay, 613402 (3)						False	3	0;0;0	1.5	False		ENSG00000039650	ENSG00000039650	HGNC:9154													
PNPO	gene	PNPO	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)						False	3	0;0;0	1.5	False		ENSG00000108439	ENSG00000108439	HGNC:30260													
POLG	gene	POLG	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)						False	3	0;0;0	1.5	False		ENSG00000140521	ENSG00000140521	HGNC:9179													
POLR1C	gene	POLR1C	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Treacher Collins syndrome 3, 248390 (3)						False	3	0;0;0	1.5	False		ENSG00000171453	ENSG00000171453	HGNC:20194													
POLR3B	gene	POLR3B	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)						False	3	0;0;0	1.5	False		ENSG00000013503	ENSG00000013503	HGNC:30348													
POMGNT1	gene	POMGNT1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)						False	3	0;0;0	1.5	False		ENSG00000085998	ENSG00000085998	HGNC:19139													
POMT1	gene	POMT1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)						False	3	0;0;0	1.5	False		ENSG00000130714	ENSG00000130714	HGNC:9202													
POMT2	gene	POMT2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)						False	3	0;0;0	1.5	False		ENSG00000009830	ENSG00000009830	HGNC:19743													
POR	gene	POR	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)						False	3	0;0;0	1.5	False		ENSG00000127948	ENSG00000127948	HGNC:9208													
POU1F1	gene	POU1F1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pituitary hormone deficiency, combined, 1, 613038 (3)						False	3	0;0;0	1.5	False		ENSG00000064835	ENSG00000064835	HGNC:9210													
PPT1	gene	PPT1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 1, 256730 (3)						False	3	0;0;0	1.5	False		ENSG00000131238	ENSG00000131238	HGNC:9325													
PQBP1	gene	PQBP1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Renpenning syndrome, 309500 (3)						False	3	0;0;0	1.5	False		ENSG00000102103	ENSG00000102103	HGNC:9330													
PRDM5	gene	PRDM5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Brittle cornea syndrome 2, 614170 (3)						False	3	0;0;0	1.5	False		ENSG00000138738	ENSG00000138738	HGNC:9349													
PRF1	gene	PRF1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)						False	3	0;0;0	1.5	False		ENSG00000180644	ENSG00000180644	HGNC:9360													
PROP1	gene	PROP1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pituitary hormone deficiency, combined, 2, 262600 (3)						False	3	0;0;0	1.5	False		ENSG00000175325	ENSG00000175325	HGNC:9455													
PRPS1	gene	PRPS1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Arts syndrome, 301835 (3)						False	3	0;0;0	1.5	False		ENSG00000147224	ENSG00000147224	HGNC:9462													
PSAP	gene	PSAP	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)						False	3	0;0;0	1.5	False		ENSG00000197746	ENSG00000197746	HGNC:9498													
PTS	gene	PTS	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)						False	3	0;0;0	1.5	False		ENSG00000150787	ENSG00000150787	HGNC:9689													
PUS1	gene	PUS1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)						False	3	0;0;0	1.5	False		ENSG00000177192	ENSG00000177192	HGNC:15508													
QDPR	gene	QDPR	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)						False	3	0;0;0	1.5	False		ENSG00000151552	ENSG00000151552	HGNC:9752													
RAB18	gene	RAB18	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Warburg micro syndrome 3, 614222 (3)						False	3	0;0;0	1.5	False		ENSG00000099246	ENSG00000099246	HGNC:14244													
RAB23	gene	RAB23	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Carpenter syndrome, 201000 (3)						False	3	0;0;0	1.5	False		ENSG00000112210	ENSG00000112210	HGNC:14263													
RAB3GAP1	gene	RAB3GAP1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Warburg micro syndrome 1, 600118 (3)						False	3	0;0;0	1.5	False		ENSG00000115839	ENSG00000115839	HGNC:17063													
RAB3GAP2	gene	RAB3GAP2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Warburg micro syndrome 2, 614225 (3)						False	3	0;0;0	1.5	False		ENSG00000118873	ENSG00000118873	HGNC:17168													
RAG1	gene	RAG1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Severe combined immunodeficiency, B cell-negative, 601457 (3)						False	3	0;0;0	1.5	False		ENSG00000166349	ENSG00000166349	HGNC:9831													
RAG2	gene	RAG2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Severe combined immunodeficiency, B cell-negative, 601457 (3)				26996199;30046960		False	3	0;0;0	1.5	False		ENSG00000175097	ENSG00000175097	HGNC:9832													
RAPSN	gene	RAPSN	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fetal akinesia deformation sequence, 208150 (3)						False	3	0;0;0	1.5	False		ENSG00000165917	ENSG00000165917	HGNC:9863													
RARS2	gene	RARS2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 6, 611523 (3)						False	3	0;0;0	1.5	False		ENSG00000146282	ENSG00000146282	HGNC:21406													
RAX	gene	RAX	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Microphthalmia, isolated 3, 611038 (3)						False	3	0;0;0	1.5	False		ENSG00000134438	ENSG00000134438	HGNC:18662													
RBBP8	gene	RBBP8	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 2, 606744 (3)						False	3	0;0;0	1.5	False		ENSG00000101773	ENSG00000101773	HGNC:9891													
RDH12	gene	RDH12	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leber congenital amaurosis 13, 612712 (3)						False	3	0;0;0	1.5	False		ENSG00000139988	ENSG00000139988	HGNC:19977													
RMND1	gene	RMND1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 11, 614922 (3)						False	3	0;0;0	1.5	False		ENSG00000155906	ENSG00000155906	HGNC:21176													
RMRP	gene	RMRP	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cartilage-hair hypoplasia, 250250 (3)						False	3	0;0;0	1.5	False		ENSG00000269900	ENSG00000269900	HGNC:10031													
RNASEH2A	gene	RNASEH2A	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 4, 610333 (3)						False	3	0;0;0	1.5	False		ENSG00000104889	ENSG00000104889	HGNC:18518													
RNASEH2B	gene	RNASEH2B	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 2, 610181 (3)						False	3	0;0;0	1.5	False		ENSG00000136104	ENSG00000136104	HGNC:25671													
RNASEH2C	gene	RNASEH2C	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 3, 610329 (3)						False	3	0;0;0	1.5	False		ENSG00000172922	ENSG00000172922	HGNC:24116													
RP2	gene	RP2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Retinitis pigmentosa 2, 312600 (3)						False	3	0;0;0	1.5	False		ENSG00000102218	ENSG00000102218	HGNC:10274													
RPE65	gene	RPE65	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leber congenital amaurosis 2, 204100 (3)						False	3	0;0;0	1.5	False		ENSG00000116745	ENSG00000116745	HGNC:10294													
RPGRIP1L	gene	RPGRIP1L	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 5, 611561 (3)						False	3	0;0;0	1.5	False		ENSG00000103494	ENSG00000103494	HGNC:29168													
RPS6KA3	gene	RPS6KA3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Coffin-Lowry syndrome						False	3	0;0;0	1.5	False		ENSG00000177189	ENSG00000177189	HGNC:10432													
RTEL1	gene	RTEL1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Dyskeratosis congenita, autosomal recessive 5, 615190 (3)						False	3	0;0;0	1.5	False		ENSG00000258366	ENSG00000258366	HGNC:15888													
RYR1	gene	RYR1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Central core disease, MIM# 117000;Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000				PMID: 16917943, PMID: 23919265, PMID: 30155738, PMID: 27855725		False	3	0;0;0	1.5	False		ENSG00000196218	ENSG00000196218	HGNC:10483													
SACS	gene	SACS	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)						False	3	0;0;0	1.5	False		ENSG00000151835	ENSG00000151835	HGNC:10519													
SAMHD1	gene	SAMHD1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 5, 612952 (3)						False	3	0;0;0	1.5	False		ENSG00000101347	ENSG00000101347	HGNC:15925													
SC5D	gene	SC5D	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Lathosterolosis, 607330 (3)						False	3	0;0;0	1.5	False		ENSG00000109929	ENSG00000109929	HGNC:10547													
SCO2	gene	SCO2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)						False	3	0;0;0	1.5	False		ENSG00000130489	ENSG00000130489	HGNC:10604													
SDCCAG8	gene	SDCCAG8	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 16, 615993 (3)						False	3	0;0;0	1.5	False		ENSG00000054282	ENSG00000054282	HGNC:10671													
SEC23B	gene	SEC23B	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Dyserythropoietic anemia, congenital, type II, 224100 (3)						False	3	0;0;0	1.5	False		ENSG00000101310	ENSG00000101310	HGNC:10702													
SEPSECS	gene	SEPSECS	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia type 2D, 613811 (3)						False	3	0;0;0	1.5	False		ENSG00000109618	ENSG00000109618	HGNC:30605													
SERAC1	gene	SERAC1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)						False	3	0;0;0	1.5	False		ENSG00000122335	ENSG00000122335	HGNC:21061													
SERPINH1	gene	SERPINH1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Orofaciodigital syndrome VI, 277170 (3)						False	3	0;0;0	1.5	False		ENSG00000149257	ENSG00000149257	HGNC:1546													
SGCA	gene	SGCA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, type 2D, 608099 (3)						False	3	0;0;0	1.5	False		ENSG00000108823	ENSG00000108823	HGNC:10805													
SGCB	gene	SGCB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, type 2E, 604286 (3)						False	3	0;0;0	1.5	False		ENSG00000163069	ENSG00000163069	HGNC:10806													
SGCD	gene	SGCD	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, type 2F, 601287 (3)						False	3	0;0;0	1.5	False		ENSG00000170624	ENSG00000170624	HGNC:10807													
SGCG	gene	SGCG	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, type 2C, 253700 (3)						False	3	0;0;0	1.5	False		ENSG00000102683	ENSG00000102683	HGNC:10809													
SGSH	gene	SGSH	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3)						False	3	0;0;0	1.5	False		ENSG00000181523	ENSG00000181523	HGNC:10818													
SH3TC2	gene	SH3TC2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, type 4C, 601596 (3)						False	3	0;0;0	1.5	False		ENSG00000169247	ENSG00000169247	HGNC:29427													
SKIV2L	gene	SKIV2L	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Trichohepatoenteric syndrome 2, 614602 (3)						False	3	0;0;0	1.5	False		ENSG00000204351	ENSG00000204351	HGNC:10898													
SLC12A1	gene	SLC12A1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bartter syndrome, type 1, 601678 (3)						False	3	0;0;0	1.5	False		ENSG00000074803	ENSG00000074803	HGNC:10910													
SLC12A6	gene	SLC12A6	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)						False	3	0;0;0	1.5	False		ENSG00000140199	ENSG00000140199	HGNC:10914													
SLC16A2	gene	SLC16A2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Allan-Herndon-Dudley syndrome						False	3	0;0;0	1.5	False		ENSG00000147100	ENSG00000147100	HGNC:10923													
SLC17A5	gene	SLC17A5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Sialic acid storage disorder, infantile, 269920 (3)						False	3	0;0;0	1.5	False		ENSG00000119899	ENSG00000119899	HGNC:10933													
SLC19A2	gene	SLC19A2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)						False	3	0;0;0	1.5	False		ENSG00000117479	ENSG00000117479	HGNC:10938													
SLC19A3	gene	SLC19A3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)						False	3	0;0;0	1.5	False		ENSG00000135917	ENSG00000135917	HGNC:16266													
SLC1A4	gene	SLC1A4	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)						False	3	0;0;0	1.5	False		ENSG00000115902	ENSG00000115902	HGNC:10942													
SLC22A5	gene	SLC22A5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Carnitine deficiency, systemic primary, 212140 (3)						False	3	0;0;0	1.5	False		ENSG00000197375	ENSG00000197375	HGNC:10969													
SLC25A1	gene	SLC25A1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)						False	3	0;0;0	1.5	False		ENSG00000100075	ENSG00000100075	HGNC:10979													
SLC25A13	gene	SLC25A13	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Citrullinemia, type II, neonatal-onset, 605814 (3)						False	3	0;0;0	1.5	False		ENSG00000004864	ENSG00000004864	HGNC:10983													
SLC25A15	gene	SLC25A15	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)						False	3	0;0;0	1.5	False		ENSG00000102743	ENSG00000102743	HGNC:10985													
SLC26A2	gene	SLC26A2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Achondrogenesis Ib, 600972 (3)						False	3	0;0;0	1.5	False		ENSG00000155850	ENSG00000155850	HGNC:10994													
SLC26A3	gene	SLC26A3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Diarrhea 1, secretory chloride, congenital, 214700 (3)						False	3	0;0;0	1.5	False		ENSG00000091138	ENSG00000091138	HGNC:3018													
SLC35A3	gene	SLC35A3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis, mental retardation, and seizures (MIM615553)				28777481;24031089;28328131		False	3	0;0;0	1.5	False		ENSG00000117620	ENSG00000117620	HGNC:11023													
SLC37A4	gene	SLC37A4	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Glycogen storage disease Ib, 232220 (3)						False	3	0;0;0	1.5	False		ENSG00000137700	ENSG00000137700	HGNC:4061													
SLC38A8	gene	SLC38A8	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)						False	3	0;0;0	1.5	False		ENSG00000166558	ENSG00000166558	HGNC:32434													
SLC39A4	gene	SLC39A4	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Acrodermatitis enteropathica, 201100 (3)						False	3	0;0;0	1.5	False		ENSG00000147804	ENSG00000147804	HGNC:17129													
SLC45A2	gene	SLC45A2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Albinism, oculocutaneous, type IV, 606574 (3)						False	3	0;0;0	1.5	False		ENSG00000164175	ENSG00000164175	HGNC:16472													
SLC46A1	gene	SLC46A1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Folate malabsorption, hereditary, 229050 (3)						False	3	0;0;0	1.5	False		ENSG00000076351	ENSG00000076351	HGNC:30521													
SLC52A2	gene	SLC52A2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Brown-Vialetto-Van Laere syndrome 2, 614707 (3)						False	3	0;0;0	1.5	False		ENSG00000185803	ENSG00000185803	HGNC:30224													
SLC52A3	gene	SLC52A3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Brown-Vialetto-Van Laere syndrome 1, 211530 (3)						False	3	0;0;0	1.5	False		ENSG00000101276	ENSG00000101276	HGNC:16187													
SLC6A5	gene	SLC6A5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hyperekplexia 3, 614618 (3)						False	3	0;0;0	1.5	False		ENSG00000165970	ENSG00000165970	HGNC:11051													
SLC6A8	gene	SLC6A8	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Cerebral creatine deficiency syndrome 1, 300352 (3)						False	3	0;0;0	1.5	False		ENSG00000130821	ENSG00000130821	HGNC:11055													
SLC7A7	gene	SLC7A7	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Lysinuric protein intolerance, 222700 (3)						False	3	0;0;0	1.5	False		ENSG00000155465	ENSG00000155465	HGNC:11065													
SMARCAL1	gene	SMARCAL1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Schimke immunoosseous dysplasia, 242900 (3)						False	3	0;0;0	1.5	False		ENSG00000138375	ENSG00000138375	HGNC:11102													
SMN1	gene	SMN1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Spinal muscular atrophy-1, 253300 (3)						False	3	0;0;0	1.5	False		ENSG00000172062	ENSG00000172062	HGNC:11117													
SMPD1	gene	SMPD1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Niemann-Pick disease, type A, 257200 (3)						False	3	0;0;0	1.5	False		ENSG00000166311	ENSG00000166311	HGNC:11120													
SNAP29	gene	SNAP29	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)						False	3	0;0;0	1.5	False		ENSG00000099940	ENSG00000099940	HGNC:11133													
SPATA5	gene	SPATA5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive						False	3	0;0;0	1.5	False		ENSG00000145375	ENSG00000145375	HGNC:18119													
SPG11	gene	SPG11	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 11, autosomal recessive, MIM# 604360				33581793		False	3	0;0;0	1.5	False		ENSG00000104133	ENSG00000104133	HGNC:11226													
SPINK5	gene	SPINK5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Netherton syndrome, 256500 (3)						False	3	0;0;0	1.5	False		ENSG00000133710	ENSG00000133710	HGNC:15464													
SPR	gene	SPR	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3)						False	3	0;0;0	1.5	False		ENSG00000116096	ENSG00000116096	HGNC:11257													
ST3GAL5	gene	ST3GAL5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive						False	3	0;0;0	1.5	False		ENSG00000115525	ENSG00000115525	HGNC:10872													
STAR	gene	STAR	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Lipoid adrenal hyperplasia, 201710 (3)						False	3	0;0;0	1.5	False		ENSG00000147465	ENSG00000147465	HGNC:11359													
STX11	gene	STX11	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)						False	3	0;0;0	1.5	False		ENSG00000135604	ENSG00000135604	HGNC:11429													
STXBP2	gene	STXBP2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)						False	3	0;0;0	1.5	False		ENSG00000076944	ENSG00000076944	HGNC:11445													
SUMF1	gene	SUMF1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Multiple sulfatase deficiency, 272200 (3)						False	3	0;0;0	1.5	False		ENSG00000144455	ENSG00000144455	HGNC:20376													
SUOX	gene	SUOX	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Sulfite oxidase deficiency, 272300 (3)						False	3	0;0;0	1.5	False		ENSG00000139531	ENSG00000139531	HGNC:11460													
SURF1	gene	SURF1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leigh syndrome, due to COX deficiency, 256000 (3)						False	3	0;0;0	1.5	False		ENSG00000148290	ENSG00000148290	HGNC:11474													
SYN1	gene	SYN1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)						False	3	0;0;0	1.5	False		ENSG00000008056	ENSG00000008056	HGNC:11494													
TANGO2	gene	TANGO2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration						False	3	0;0;0	1.5	False		ENSG00000183597	ENSG00000183597	HGNC:25439													
TAT	gene	TAT	Expert Review Green;Literature	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	"Tyrosinemia, type II	(MIM#276600)"				16574453		False	3	0;0;0	1.5	False		ENSG00000198650	ENSG00000198650	HGNC:11573													
TAZ	gene	TAZ	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Barth syndrome, 302060 (3)						False	3	0;0;0	1.5	False		ENSG00000102125	ENSG00000102125	HGNC:11577													
TBC1D23	gene	TBC1D23	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive						False	3	0;0;0	1.5	False		ENSG00000036054	ENSG00000036054	HGNC:25622													
TBC1D24	gene	TBC1D24	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 16, 615338 (3)						False	3	0;0;0	1.5	False		ENSG00000162065	ENSG00000162065	HGNC:29203													
TBCD	gene	TBCD	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive						False	3	0;0;0	1.5	False		ENSG00000141556	ENSG00000141556	HGNC:11581													
TBCE	gene	TBCE	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Kenny-Caffey syndrome-1, 244460 (3)						False	3	0;0;0	1.5	False		ENSG00000116957	ENSG00000116957	HGNC:11582													
TCIRG1	gene	TCIRG1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Osteopetrosis, autosomal recessive 1, 259700 (3)						False	3	0;0;0	1.5	False		ENSG00000110719	ENSG00000110719	HGNC:11647													
TCN2	gene	TCN2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Transcobalamin II deficiency, 275350 (3)						False	3	0;0;0	1.5	False		ENSG00000185339	ENSG00000185339	HGNC:11653													
TCTN2	gene	TCTN2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 24						False	3	0;0;0	1.5	False		ENSG00000168778	ENSG00000168778	HGNC:25774													
TCTN3	gene	TCTN3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 18, 614815 (3)						False	3	0;0;0	1.5	False		ENSG00000119977	ENSG00000119977	HGNC:24519													
TECPR2	gene	TECPR2	Expert Review Green;Literature	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031				23176824;35130874;26542466		False	3	0;0;0	1.5	False		ENSG00000196663	ENSG00000196663	HGNC:19957													
TELO2	gene	TELO2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive						False	3	0;0;0	1.5	False		ENSG00000100726	ENSG00000100726	HGNC:29099													
TF	gene	TF	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Atransferrinemia, 209300 (3)						False	3	0;0;0	1.5	False		ENSG00000091513	ENSG00000091513	HGNC:11740													
TGM1	gene	TGM1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis, congenital, autosomal recessive 1, 242300 (3)						False	3	0;0;0	1.5	False		ENSG00000092295	ENSG00000092295	HGNC:11777													
TH	gene	TH	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Segawa syndrome, recessive, MIM# 605407						False	3	0;0;0	1.5	False		ENSG00000180176	ENSG00000180176	HGNC:11782													
THOC2	gene	THOC2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive						False	3	0;0;0	1.5	False		ENSG00000125676	ENSG00000125676	HGNC:19073													
TK2	gene	TK2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)						False	3	0;0;0	1.5	False		ENSG00000166548	ENSG00000166548	HGNC:11831													
TMEM138	gene	TMEM138	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 16, 614465 (3)						False	3	0;0;0	1.5	False		ENSG00000149483	ENSG00000149483	HGNC:26944													
TMEM216	gene	TMEM216	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 2, 608091 (3)						False	3	0;0;0	1.5	False		ENSG00000187049	ENSG00000187049	HGNC:25018													
TMEM231	gene	TMEM231	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 20, 614970 (3)						False	3	0;0;0	1.5	False		ENSG00000205084	ENSG00000205084	HGNC:37234													
TMEM237	gene	TMEM237	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 14, 614424 (3)						False	3	0;0;0	1.5	False		ENSG00000155755	ENSG00000155755	HGNC:14432													
TMEM67	gene	TMEM67	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 6, 610688 (3)						False	3	0;0;0	1.5	False		ENSG00000164953	ENSG00000164953	HGNC:28396													
TMTC3	gene	TMTC3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Lissencephaly 8, 617255 (3), Autosomal recessive						False	3	0;0;0	1.5	False		ENSG00000139324	ENSG00000139324	HGNC:26899													
TOE1	gene	TOE1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive						False	3	0;0;0	1.5	False		ENSG00000132773	ENSG00000132773	HGNC:15954													
TPP1	gene	TPP1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 2, 204500 (3)						False	3	0;0;0	1.5	False		ENSG00000166340	ENSG00000166340	HGNC:2073													
TRDN	gene	TRDN	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)						False	3	0;0;0	1.5	False		ENSG00000186439	ENSG00000186439	HGNC:12261													
TREX1	gene	TREX1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)						False	3	0;0;0	1.5	False		ENSG00000213689	ENSG00000213689	HGNC:12269													
TRIM32	gene	TRIM32	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, type 2H, 254110 (3)						False	3	0;0;0	1.5	False		ENSG00000119401	ENSG00000119401	HGNC:16380													
TRIM37	gene	TRIM37	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mulibrey nanism, 253250 (3)						False	3	0;0;0	1.5	False		ENSG00000108395	ENSG00000108395	HGNC:7523													
TRMU	gene	TRMU	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Liver failure, transient infantile, 613070 (3)						False	3	0;0;0	1.5	False		ENSG00000100416	ENSG00000100416	HGNC:25481													
TRPM6	gene	TRPM6	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypomagnesemia 1, intestinal, 602014 (3)						False	3	0;0;0	1.5	False		ENSG00000119121	ENSG00000119121	HGNC:17995													
TSEN2	gene	TSEN2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia type 2B, 612389 (3)						False	3	0;0;0	1.5	False		ENSG00000154743	ENSG00000154743	HGNC:28422													
TSEN54	gene	TSEN54	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia type 2A, 277470 (3)						False	3	0;0;0	1.5	False		ENSG00000182173	ENSG00000182173	HGNC:27561													
TSFM	gene	TSFM	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 3, 610505 (3)						False	3	0;0;0	1.5	False		ENSG00000123297	ENSG00000123297	HGNC:12367													
TSHB	gene	TSHB	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hypothryoidism, congenital, nongoitrous 4, 275100 (3)						False	3	0;0;0	1.5	False		ENSG00000134200	ENSG00000134200	HGNC:12372													
TTC37	gene	TTC37	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Trichohepatoenteric syndrome 1, 222470 (3)						False	3	0;0;0	1.5	False		ENSG00000198677	ENSG00000198677	HGNC:23639													
TTC7A	gene	TTC7A	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)						False	3	0;0;0	1.5	False		ENSG00000068724	ENSG00000068724	HGNC:19750													
TTC8	gene	TTC8	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 8, 615985 (3)						False	3	0;0;0	1.5	False		ENSG00000165533	ENSG00000165533	HGNC:20087													
TTPA	gene	TTPA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ataxia with isolated vitamin E deficiency, 277460 (3)						False	3	0;0;0	1.5	False		ENSG00000137561	ENSG00000137561	HGNC:12404													
TULP1	gene	TULP1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa 14, 600132 (3)						False	3	0;0;0	1.5	False		ENSG00000112041	ENSG00000112041	HGNC:12423													
TWNK	gene	TWNK	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)						False	3	0;0;0	1.5	False		ENSG00000107815	ENSG00000107815	HGNC:1160													
TYMP	gene	TYMP	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)						False	3	0;0;0	1.5	False		ENSG00000025708	ENSG00000025708	HGNC:3148													
TYR	gene	TYR	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Albinism, oculocutaneous, type IA, 203100 (3)						False	3	0;0;0	1.5	False		ENSG00000077498	ENSG00000077498	HGNC:12442													
TYRP1	gene	TYRP1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Albinism, oculocutaneous, type III, 203290 (3)						False	3	0;0;0	1.5	False		ENSG00000107165	ENSG00000107165	HGNC:12450													
UBA5	gene	UBA5	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive						False	3	0;0;0	1.5	False		ENSG00000081307	ENSG00000081307	HGNC:23230													
UBE2T	gene	UBE2T	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group T, 616435 (3)						False	3	0;0;0	1.5	False		ENSG00000077152	ENSG00000077152	HGNC:25009													
UBR1	gene	UBR1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Johanson-Blizzard syndrome, 243800 (3)						False	3	0;0;0	1.5	False		ENSG00000159459	ENSG00000159459	HGNC:16808													
UGT1A1	gene	UGT1A1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Crigler-Najjar syndrome, type I, 218800 (3)						False	3	0;0;0	1.5	False		ENSG00000241635	ENSG00000241635	HGNC:12530													
UNC13D	gene	UNC13D	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)						False	3	0;0;0	1.5	False		ENSG00000092929	ENSG00000092929	HGNC:23147													
UPF3B	gene	UPF3B	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, syndromic 14, 300676 (3)						False	3	0;0;0	1.5	False		ENSG00000125351	ENSG00000125351	HGNC:20439													
USH1C	gene	USH1C	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type 1C, 276904 (3)						False	3	0;0;0	1.5	False		ENSG00000006611	ENSG00000006611	HGNC:12597													
USH1G	gene	USH1G	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type 1G, 606943 (3)						False	3	0;0;0	1.5	False		ENSG00000182040	ENSG00000182040	HGNC:16356													
USH2A	gene	USH2A	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type 2A, 276901 (3)						False	3	0;0;0	1.5	False		ENSG00000042781	ENSG00000042781	HGNC:12601													
USP9X	gene	USP9X	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Intellectual developmental disorder 99 MIM#300919;syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968						False	3	0;0;0	1.5	False		ENSG00000124486	ENSG00000124486	HGNC:12632													
VLDLR	gene	VLDLR	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)						False	3	0;0;0	1.5	False		ENSG00000147852	ENSG00000147852	HGNC:12698													
VPS11	gene	VPS11	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive				27473128;26307567;27120463		False	3	0;0;0	1.5	False		ENSG00000160695	ENSG00000160695	HGNC:14583													
VPS13B	gene	VPS13B	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cohen syndrome, 216550 (3)						False	3	0;0;0	1.5	False		ENSG00000132549	ENSG00000132549	HGNC:2183													
VPS45	gene	VPS45	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)						False	3	0;0;0	1.5	False		ENSG00000136631	ENSG00000136631	HGNC:14579													
VPS53	gene	VPS53	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia, type 2E, 615851 (3)						False	3	0;0;0	1.5	False		ENSG00000141252	ENSG00000141252	HGNC:25608													
VRK1	gene	VRK1	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Pontocerebellar hypoplasia type 1A, 607596 (3)						False	3	0;0;0	1.5	False		ENSG00000100749	ENSG00000100749	HGNC:12718													
VSX2	gene	VSX2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Microphthalmia with coloboma 3, 610092 (3)						False	3	0;0;0	1.5	False		ENSG00000119614	ENSG00000119614	HGNC:1975													
WAS	gene	WAS	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Wiskott-Aldrich syndrome, 301000 (3)						False	3	0;0;0	1.5	False		ENSG00000015285	ENSG00000015285	HGNC:12731													
WDR34	gene	WDR34	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)						False	3	0;0;0	1.5	False		ENSG00000119333	ENSG00000119333	HGNC:28296													
WDR62	gene	WDR62	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)						False	3	0;0;0	1.5	False		ENSG00000075702	ENSG00000075702	HGNC:24502													
WDR81	gene	WDR81	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)						False	3	0;0;0	1.5	False		ENSG00000167716	ENSG00000167716	HGNC:26600													
WHRN	gene	WHRN	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type 2D, 611383 (3)						False	3	0;0;0	1.5	False		ENSG00000095397	ENSG00000095397	HGNC:16361													
WISP3	gene	WISP3	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)						False	3	0;0;0	1.5	False		ENSG00000112761	ENSG00000112761	HGNC:12771													
WRN	gene	WRN	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Werner syndrome, 277700 (3)						False	3	0;0;0	1.5	False		ENSG00000165392	ENSG00000165392	HGNC:12791													
WWOX	gene	WWOX	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 28, 616211 (3)						False	3	0;0;0	1.5	False		ENSG00000186153	ENSG00000186153	HGNC:12799													
XIAP	gene	XIAP	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Lymphoproliferative syndrome, X-linked, 2, 300635 (3)						False	3	0;0;0	1.5	False		ENSG00000101966	ENSG00000101966	HGNC:592													
XPA	gene	XPA	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum, group A, 278700 (3)						False	3	0;0;0	1.5	False		ENSG00000136936	ENSG00000136936	HGNC:12814													
XPC	gene	XPC	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum, group C, 278720 (3)						False	3	0;0;0	1.5	False		ENSG00000154767	ENSG00000154767	HGNC:12816													
YARS2	gene	YARS2	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)						False	3	0;0;0	1.5	False		ENSG00000139131	ENSG00000139131	HGNC:24249													
ZBTB24	gene	ZBTB24	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3)						False	3	0;0;0	1.5	False		ENSG00000112365	ENSG00000112365	HGNC:21143													
ZDHHC9	gene	ZDHHC9	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked syndromic, Raymond type, 300799 (3)						False	3	0;0;0	1.5	False		ENSG00000188706	ENSG00000188706	HGNC:18475													
ZFYVE26	gene	ZFYVE26	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia 15, autosomal recessive, 270700 (3)						False	3	0;0;0	1.5	False		ENSG00000072121	ENSG00000072121	HGNC:20761													
ZNF711	gene	ZNF711	Expert Review Green;Mackenzie's Mission	Prepair 500+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked 97, 300803 (3)						False	3	0;0;0	1.5	False		ENSG00000147180	ENSG00000147180	HGNC:13128