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
B9D1	gene	B9D1	Expert Review Amber;Literature	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 9, MIM# 614209;Joubert syndrome 27, MIM# 617120				24886560;21493627;25920555		False	2	0;0;0	0.109	True		ENSG00000108641	ENSG00000108641	HGNC:24123													
COL2A1	gene	COL2A1	Expert Review Amber;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Spondyloperipheral dysplasia, MIM #271700				31755234;32896647		False	2	0;100;0	0.109	True		ENSG00000139219	ENSG00000139219	HGNC:2200													
DYNC1I2	gene	DYNC1I2	Expert Review;Expert Review Amber	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	"Neurodevelopmental disorder with microcephaly and structural brain anomalies	, MIM#618492"				31079899		False	2	50;0;50	0.109	True		ENSG00000077380	ENSG00000077380	HGNC:2964													
ERBB3	gene	ERBB3	Expert Review Amber;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Lethal congenital contractural syndrome 2, 607598 (3)						False	2	50;50;0	0.109	True		ENSG00000065361	ENSG00000065361	HGNC:3431													
KCNE1	gene	KCNE1	Expert Review Amber;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Jervell and Lange-Nielsen syndrome 2, 612347 (3)						False	2	50;50;0	0.109	False		ENSG00000180509	ENSG00000180509	HGNC:6240													
MBTPS1	gene	MBTPS1	Expert Review;Expert Review Amber;Literature	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	?Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM #618392				32857899;32420688;30046013		False	2	0;100;0	0.109	True		ENSG00000140943	ENSG00000140943	HGNC:15456													
MOGS	gene	MOGS	Expert Review;Expert Review Amber	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIb, MIM# 606056				31925597;30587846;33058492		False	2	100;0;0	0.109	True		ENSG00000115275	ENSG00000115275	HGNC:24862													
NTNG2	gene	NTNG2	Expert Review;Expert Review Amber	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718				31668703;31692205		False	2	100;0;0	0.109	True		ENSG00000196358	ENSG00000196358	HGNC:14288													
POLA1	gene	POLA1	Expert Review Amber;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220;Van Esch-O'Driscoll syndrome, MIM #301030						False	2	0;100;0	0.109	True		ENSG00000101868	ENSG00000101868	HGNC:9173													
RPL10	gene	RPL10	Expert Review Amber;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, syndromic, 35 (MIM#300998)						False	2	0;100;0	0.109	True		ENSG00000147403	ENSG00000147403	HGNC:10298													
TMEM94	gene	TMEM94	Expert list;Expert Review Amber	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316				30526868		False	2	50;50;0	0.109	True		ENSG00000177728	ENSG00000177728	HGNC:28983													
TRAC	gene	TRAC	Expert Review Amber;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)						False	2	0;100;0	0.109	True		ENSG00000229164	ENSG00000277734	HGNC:12029													
XPNPEP3	gene	XPNPEP3	Expert Review Amber;Mackenzie's Mission	Mackenzie's Mission_Reproductive Carrier Screening		Screening	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis-like nephropathy 1, 613159 (3)						False	2	0;100;0	0.109	True		ENSG00000196236	ENSG00000196236	HGNC:28052