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
ABCA4	gene	ABCA4	Expert Review Red;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Stargardt disease 1 MIM#248200;Retinal dystrophy, early-onset severe MIM#248200;Cone-rod dystrophy 3 MIM#604116						False	1	0;0;100	0.109	False		ENSG00000198691	ENSG00000198691	HGNC:34													
ABCC6	gene	ABCC6	Expert Review Red;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Pseudoxanthoma elasticum MIM#264800;Arterial calcification, generalized, of infancy, 2 MIM#614473						False	1	0;0;100	0.109	True		ENSG00000091262	ENSG00000091262	HGNC:57													
ACSF3	gene	ACSF3	Expert Review Red;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Combined malonic and methylmalonic aciduria, MIM#614265						False	1	0;0;100	0.109	True		ENSG00000176715	ENSG00000176715	HGNC:27288													
ACY1	gene	ACY1	Expert Review	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Aminoacylase 1 deficiency, MIM# 609924				16274666;16465618;17562838;24117009		False	1	100;0;0	0.109	False		ENSG00000243989	ENSG00000243989	HGNC:177													
ADPRHL2	gene	ADPRHL2	Expert Review	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170				30100084;30401461		False	1	100;0;0	0.109	False		ENSG00000116863	ENSG00000116863	HGNC:21304													
AFF2	gene	AFF2	Expert Review;Expert Review Red	Mackenzie's Mission_Reproductive Carrier Screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, FRAXE type, #309548						False	1	0;0;0	0.109	True		ENSG00000155966	ENSG00000155966	HGNC:3776													
BCAP31	gene	BCAP31	Expert Review	Mackenzie's Mission_Reproductive Carrier Screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Deafness, dystonia, and cerebral hypomyelination, MIM# 300475				24011989;31330203;33603160		False	1	100;0;0	0.109	False		ENSG00000185825	ENSG00000185825	HGNC:16695													
CBS	gene	CBS	Expert Review Red;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)						False	1	0;0;100	0.109	True		ENSG00000160200	ENSG00000160200	HGNC:1550													
CD81	gene	CD81	Expert Review Red;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency, common variable, 6, 613496 (3)				20237408		False	1	0;0;100	0.109	True		ENSG00000110651	ENSG00000110651	HGNC:1701													
CIB2	gene	CIB2	Expert Review Red;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type IJ, 614869 (3)						False	1	0;0;100	0.109	True		ENSG00000136425	ENSG00000136425	HGNC:24579													
COG5	gene	COG5	Expert Review	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIi, MIM# 613612				23228021;31572517;32174980		False	1	100;0;0	0.109	False		ENSG00000164597	ENSG00000164597	HGNC:14857													
FAM161A	gene	FAM161A	Expert Review Red;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa 28, MIM #606068						False	1	0;0;100	0.109	True		ENSG00000170264	ENSG00000170264	HGNC:25808													
FITM2	gene	FITM2	Expert list;Expert Review Red	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Siddiqi syndrome MIM#618635				28067622;30214770;30288795		False	1	50;0;50	0.109	True		ENSG00000197296	ENSG00000197296	HGNC:16135													
GTPBP2	gene	GTPBP2	Expert Review	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Jaberi-Elahi syndrome, MIM#617988				26675814;29449720;30790272		False	1	100;0;0	0.109	False		ENSG00000172432	ENSG00000172432	HGNC:4670													
IMPG2	gene	IMPG2	Expert Review Red;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa 56, MIM #613801						False	1	0;0;100	0.109	True		ENSG00000081148	ENSG00000081148	HGNC:18362													
ISCA1	gene	ISCA1	Expert Review;Expert Review Red	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Multiple mitochondrial dysfunctions syndrome 5, MIM#	617613"				28356563;32092383;31016283;30113620;30105122		False	1	100;0;0	0.109	True		ENSG00000135070	ENSG00000135070	HGNC:28660													
ITGA3	gene	ITGA3	Expert Review	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748				22512483;25810266;27717396;32198874;26854491		False	1	100;0;0	0.109	False		ENSG00000005884	ENSG00000005884	HGNC:6139													
KRT8	gene	KRT8	Expert Review Red;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	CIRRHOSIS, FAMILIAL, MIM #215600				15235035;11372009;12724528		False	1	0;0;100	0.109	True		ENSG00000170421	ENSG00000170421	HGNC:6446													
OPN1LW	gene	OPN1LW	Expert Review Red;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Blue cone monochromacy, MIM#303700;Colorblindness, protan, MIM#303900						False	1	0;0;100	0.109	False		ENSG00000102076	ENSG00000102076	HGNC:9936													
PDE6B	gene	PDE6B	Expert Review Red;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa-40, MIM #613801						False	1	0;0;100	0.109	True		ENSG00000133256	ENSG00000133256	HGNC:8786													
PIP5K1C	gene	PIP5K1C	Expert Review Red;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Lethal congenital contractural syndrome 3, 611369 (3)						False	1	0;100;0	0.109	True		ENSG00000186111	ENSG00000186111	HGNC:8996													
PTPN23	gene	PTPN23	Expert list	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890				31395947;29899372;29090338;27848944;25558065		False	1	100;0;0	0.109	False		ENSG00000076201	ENSG00000076201	HGNC:14406													
PUS7	gene	PUS7	Expert list	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature;OMIM #618342				30526862;30778726;31583274		False	1	100;0;0	0.109	False		ENSG00000091127	ENSG00000091127	HGNC:26033													
TBC1D20	gene	TBC1D20	Expert list	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Warburg micro syndrome 4, MIM# 615663;Martsolf syndrome				24239381;32740904;32162791		False	1	100;0;0	0.109	False		ENSG00000125875	ENSG00000125875	HGNC:16133													
TBX22	gene	TBX22	Expert Review;Expert Review Red	Mackenzie's Mission_Reproductive Carrier Screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Cleft palate with ankyloglossia, MIM #303400						False	1	0;0;100	0.109	True		ENSG00000122145	ENSG00000122145	HGNC:11600													
TP53RK	gene	TP53RK	Expert Review	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Galloway-Mowat syndrome 4, MIM# 617730				28805828;30053862		False	1	100;0;0	0.109	False		ENSG00000172315	ENSG00000172315	HGNC:16197													
TPRKB	gene	TPRKB	Expert Review	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Galloway-Mowat syndrome 5, MIM# 617731				28805828;30053862		False	1	100;0;0	0.109	False		ENSG00000144034	ENSG00000144034	HGNC:24259													
TRAPPC12	gene	TRAPPC12	Expert Review	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669				32369837;28777934		False	1	100;0;0	0.109	False		ENSG00000171853	ENSG00000171853	HGNC:24284													
TRAPPC6B	gene	TRAPPC6B	Expert Review	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862				28626029;28397838;31687267		False	1	100;0;0	0.109	False		ENSG00000182400	ENSG00000182400	HGNC:23066													
TSPYL1	gene	TSPYL1	Expert Review Red;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)						False	1	0;100;0	0.109	True		ENSG00000189241	ENSG00000189241	HGNC:12382													
TUBA8	gene	TUBA8	Expert Review Red;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Polymicrogyria with optic nerve hypoplasia, 613180 (3)						False	1	0;0;100	0.109	True		ENSG00000183785	ENSG00000183785	HGNC:12410													
UPB1	gene	UPB1	Expert Review Red;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Beta-ureidopropionase deficiency, MIM #613161				24526388		False	1	0;0;100	0.109	True		ENSG00000100024	ENSG00000100024	HGNC:16297													
UQCRC2	gene	UQCRC2	Expert Review Red;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)						False	1	0;100;0	0.109	True		ENSG00000140740	ENSG00000140740	HGNC:12586													
YIF1B	gene	YIF1B	Expert Review	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Central hypotonia;Failure to thrive;Microcephaly;Global developmental delay;Intellectual disability;Seizures;Spasticity;Abnormality of movement				32006098;26077767		False	1	50;0;50	0.109	False		ENSG00000167645	ENSG00000167645	HGNC:30511													
ZNF469	gene	ZNF469	Expert Review Red;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Brittle cornea syndrome 1, MIM #229200						False	1	0;0;100	0.109	True		ENSG00000225614	ENSG00000225614	HGNC:23216