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
ADPRHL2	gene	ADPRHL2	Expert Review;Expert Review Amber	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170				30401461;30100084		False	2	50;50;0	1.1566	True		ENSG00000116863	ENSG00000116863	HGNC:21304													
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	1.1566	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	1.1566	True		ENSG00000160224	ENSG00000160224	HGNC:360													
B9D1	gene	B9D1	Expert Review Amber;Literature	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 27, MIM# 617120;Meckel syndrome 9, MIM# 614209				21493627;24886560;25920555;32622957		False	2	0;100;0	1.1566	True		ENSG00000108641	ENSG00000108641	HGNC:24123													
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	1.1566	True		ENSG00000169814	ENSG00000169814	HGNC:1122													
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	1.1566	True		ENSG00000188452	ENSG00000188452	HGNC:21699													
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	1.1566	True		ENSG00000144191	ENSG00000144191	HGNC:2150													
DYNC1I2	gene	DYNC1I2	Expert Review;Expert Review Amber	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	"Neurodevelopmental disorder with microcephaly and structural brain anomalies	, MIM#618492"				31079899		False	2	100;0;0	1.1566	True		ENSG00000077380	ENSG00000077380	HGNC:2964													
ERBB3	gene	ERBB3	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Visceral neuropathy, familial, 1, autosomal recessive MIM#243180				17701904;31752936;33497358;12548738;38009810		False	2	0;100;0	1.1566	True		ENSG00000065361	ENSG00000065361	HGNC:3431													
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	1.1566	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	1.1566	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	1.1566	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	1.1566	True		ENSG00000073009	ENSG00000269335	HGNC:5961													
MBTPS1	gene	MBTPS1	Expert Review;Expert Review Amber;Literature	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	?Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM #618392				32857899;30046013;32420688		False	2	100;0;0	1.1566	True		ENSG00000140943	ENSG00000140943	HGNC:15456													
MOGS	gene	MOGS	Expert Review;Expert Review Amber	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIb, MIM# 606056				31925597;30587846;33058492;38498292;33261925		False	2	100;0;0	1.1566	True		ENSG00000115275	ENSG00000115275	HGNC:24862													
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	1.1566	True		ENSG00000158517	ENSG00000158517	HGNC:7660													
NTNG2	gene	NTNG2	Expert Review;Expert Review Amber	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718				31692205;31668703		False	2	100;0;0	1.1566	True		ENSG00000196358	ENSG00000196358	HGNC:14288													
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	1.1566	True		ENSG00000186111	ENSG00000186111	HGNC:8996													
POLA1	gene	POLA1	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		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				27019227;31006512		False	2	100;0;0	1.1566	True		ENSG00000101868	ENSG00000101868	HGNC:9173													
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	1.1566	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	1.1566	True		ENSG00000185960	ENSG00000185960	HGNC:10853													
TMEM94	gene	TMEM94	Expert list;Expert Review Amber	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316				30526868		False	2	100;0;0	1.1566	False		ENSG00000177728	ENSG00000177728	HGNC:28983													
TTN	gene	TTN	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)						False	2	0;100;0	1.1566	True		ENSG00000155657	ENSG00000155657	HGNC:12403													
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	1.1566	True		ENSG00000110799	ENSG00000110799	HGNC:12726													
XPNPEP3	gene	XPNPEP3	Expert Review Amber;Mackenzie's Mission	Prepair 1000+		Screening	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis-like nephropathy 1, 613159 (3)						False	2	0;0;0	1.1566	False		ENSG00000196236	ENSG00000196236	HGNC:28052