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
AFF2	gene	AFF2	Expert Review;Expert Review Amber	Prepair 1000+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Intellectual disability, X-linked, FRAXE type 309548				35431806;8334699;21739600;22773736		False	2	0;100;0	2.17	True		ENSG00000155966	ENSG00000155966	HGNC:3776													
AIRE	gene	AIRE	Expert Review Amber;Literature	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia (MIM#240300)				35521792;28323927;33352647		False	2	0;100;0	2.17	True		ENSG00000160224	ENSG00000160224	HGNC:360													
BTD	gene	BTD	Expert Review Amber;Literature	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Biotinidase deficiency (MIM#253260)				16435182;20301497;32440248		False	2	0;33;67	2.17	True		ENSG00000169814	ENSG00000169814	HGNC:1122													
CBS	gene	CBS	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Homocystinuria, B6-responsive and nonresponsive types, MIM#236200				7506602;10338090;7967489;27778219		False	2	0;100;0	2.17	True		ENSG00000160200	ENSG00000160200	HGNC:1550													
CERKL	gene	CERKL	Expert Review Amber;Literature	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa 26 (MIM#608380)				33322828		False	2	0;100;0	2.17	True		ENSG00000188452	ENSG00000188452	HGNC:21699													
CLN3	gene	CLN3	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Ceroid lipofuscinosis, neuronal, 3, MIM# 204200;MONDO:0008767				7553855;9004140;9311735;31926949		False	2	100;0;0	2.17	True		ENSG00000188603	ENSG00000188603	HGNC:2074													
CNGA3	gene	CNGA3	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Achromatopsia-2, 216900 (3)				11536077;35332618		False	2	0;67;33	2.17	True		ENSG00000144191	ENSG00000144191	HGNC:2150													
CSTB	gene	CSTB	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)				27582036;9012407;38135787		False	2	0;100;0	2.17	True		ENSG00000160213	ENSG00000160213	HGNC:2482													
F5	gene	F5	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Factor V deficiency, 227400 (3)						False	2	0;67;33	2.17	True		ENSG00000198734	ENSG00000198734	HGNC:3542													
GBA	gene	GBA	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Gaucher disease, perinatal lethal, 608013 (3)				28727984		False	2	0;100;0	2.17	True		ENSG00000177628	ENSG00000177628	HGNC:4177													
IGHM	gene	IGHM	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Agammaglobulinaemia 1, 601495 (3)				12370281;8890099		False	2	0;100;0	2.17	True		ENSG00000211899	ENSG00000211899	HGNC:5541													
IKBKG	gene	IKBKG	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3)						False	2	0;100;0	2.17	True		ENSG00000073009	ENSG00000269335	HGNC:5961													
LRSAM1	gene	LRSAM1	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)				38330802;33568173		False	2	0;0;100	2.17	True		ENSG00000148356	ENSG00000148356	HGNC:25135													
NCF1	gene	NCF1	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Chronic granulomatous disease 1, autosomal recessive (MIM#233700)				30651282;23688784		False	2	0;100;0	2.17	True		ENSG00000158517	ENSG00000158517	HGNC:7660													
PIP5K1C	gene	PIP5K1C	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Lethal congenital contractural syndrome 3, 611369 (3)				17701898;38491417		False	2	0;50;50	2.17	True		ENSG00000186111	ENSG00000186111	HGNC:8996													
RARB	gene	RARB	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Microphthalmia, syndromic 12 MIM#615524				30880327;30281527;24075189;27120018;25457163;17506106		False	2	0;100;0	2.17	True		ENSG00000077092	ENSG00000077092	HGNC:9865													
RBM8A	gene	RBM8A	Expert Review Amber;Literature	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Thrombocytopenia-absent radius syndrome MIM#274000				22366785;17236129;26550033;32227665		False	2	0;100;0	2.17	True		ENSG00000131795	ENSG00000265241	HGNC:9905													
RCBTB1	gene	RCBTB1	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Retinal dystrophy with or without extraocular anomalies (MIM#617175)				27486781;33104391;33624564		False	2	0;100;0	2.17	True		ENSG00000136144	ENSG00000136144	HGNC:18243													
RPGR	gene	RPGR	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Retinitis pigmentosa 3 (MIM#300029)				12657579;30193314		False	2	0;100;0	2.17	True		ENSG00000156313	ENSG00000156313	HGNC:10295													
SHOX	gene	SHOX	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	Other	Langer mesomelic dysplasia, 249700 (3)						False	2	0;100;0	2.17	True		ENSG00000185960	ENSG00000185960	HGNC:10853													
SLC9A3	gene	SLC9A3	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive				30633106;31276831;26358773;32227118;35775128		False	2	0;100;0	2.17	True		ENSG00000066230	ENSG00000066230	HGNC:11073													
UQCRC2	gene	UQCRC2	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)				28275242;33865955;23281071		False	2	0;100;0	2.17	True		ENSG00000140740	ENSG00000140740	HGNC:12586													
VWF	gene	VWF	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)						False	2	0;100;0	2.17	True		ENSG00000110799	ENSG00000110799	HGNC:12726