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
CDKN1C	gene	CDKN1C	Expert Review Green;Imprinting GeCIP Subdomain;Literature	Genomic imprinting			MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Phenotypes resulting from gene over expression: IMAGE syndrome; Silver-Russell Syndrome; Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome; Affected tissue: all				 23511928; 20503313; 22205991]; 10424811; 19843502;30794780;PMID: 8841187; [15372379;http://igc.otago.ac.nz/home.html		False	3	0;100;0	0.157	False		ENSG00000129757	ENSG00000129757	HGNC:1786													
GNAS	gene	GNAS	Expert Review Green;Imprinting GeCIP Subdomain;Literature	Genomic imprinting			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pseudohypoparathyroidism Ia, OMIM:103580;Pseudohypoparathyroidism Ib, OMIM:603233;Pseudohypoparathyroidism Ic, OMIM:612462				 [11406605; 15592469; 12024004; 15800843]; 11788646; 9506752;30794780; [15592469; 15181091; 1944469;http://igc.otago.ac.nz/home.html;PMID: 2109828; 12024005; 10980525		False	3	0;100;0	0.157	False		ENSG00000087460	ENSG00000087460	HGNC:4392													
GRB10	gene	GRB10	Expert Review Green;Literature	Genomic imprinting			MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Silver-Russell syndrome 2, OMIM:618905				10631135;12384779;10987657;33187293;10861285;10856193;27370225;10856193;11112662;30794780;29455159;http://igc.otago.ac.nz/home.html		False	3	100;0;0	0.157	False		ENSG00000106070	ENSG00000106070	HGNC:4564													
H19	gene	H19	Expert Review Green;Imprinting GeCIP Subdomain	Genomic imprinting			MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Silver-Russell syndrome, OMIM:180860;Wilms tumor 2, OMIM:194071;Beckwith-Wiedemann syndrome, OMIM:130650				PMID: 20007505; [21863054; 15743916; 25943194; 24916376; 23118352; 21571108; 18245780]		False	3	0;0;0	0.157	False		ENSG00000130600	ENSG00000130600	HGNC:4713													
IGF2	gene	IGF2	Expert Review Green;Imprinting GeCIP Subdomain;Literature	Genomic imprinting			MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Phenotypes resulting from gene over expression: Beckwith-Wiedemann Syndrome (proven effects of dosage alteration rather than gene muation). Phenotype resulting from under expression: Silver-Russell Syndrome; Affected tissue: all				PMID: 26154720;30794780;http://igc.otago.ac.nz/home.html		False	3	0;100;0	0.157	False		ENSG00000167244	ENSG00000167244	HGNC:5466													
KCNK9	gene	KCNK9	Expert Review Green;Imprinting GeCIP Subdomain;Literature	Genomic imprinting			MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Birk-Barel syndrome; Phenotype resulting from under expression: mental retardation, hypotonia, dysmprophism; Affected tissue: brain				30794780;PMID: 24667089;http://igc.otago.ac.nz/home.html; 18678320		False	3	0;0;0	0.157	False		ENSG00000169427	ENSG00000169427	HGNC:6283													
KCNQ1	gene	KCNQ1	Expert Review Green;Literature	Genomic imprinting			MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Short QT syndrome 2, OMIM:609621;Long QT syndrome-1, OMIM:192500;Atrial fibrillation, familial, 3, OMIM:607554				30794780;http://igc.otago.ac.nz/home.html		False	3	0;0;0	0.157	False		ENSG00000053918	ENSG00000053918	HGNC:6294													
KCNQ1OT1	gene	KCNQ1OT1	Expert Review Green;Imprinting GeCIP Subdomain;Literature	Genomic imprinting			MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Beckwith-Wiedemann syndrome OMIM:130650				10220444;23511928;15372379;30794780;http://igc.otago.ac.nz/home.html;22205991		False	3	100;0;0	0.157	False		ENSG00000269821	ENSG00000269821	HGNC:6295													
KHDC3L	gene	KHDC3L	Expert Review Green;Imprinting GeCIP Subdomain	Genomic imprinting			BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Hydatidiform mole, recurrent, 2 OMIM:614293;hydatidiform mole, recurrent, 2 MONDO:0013671				21885028;23232697;31847873;31201414		False	3	100;0;0	0.157	False		ENSG00000203908	ENSG00000203908	HGNC:33699													
L3MBTL1	gene	L3MBTL1	Expert Review Green;Imprinting GeCIP Subdomain;Literature	Genomic imprinting			MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Phenotype resulting from under expression: lymphoid malignancy; Affected tissue: myeloid lineages				 23543057;30794780;PMID: 15123827;http://igc.otago.ac.nz/home.html		False	3	0;0;0	0.157	False		ENSG00000185513	ENSG00000185513	HGNC:15905													
MAGEL2	gene	MAGEL2	Expert Review Green;Literature;PanelApp	Genomic imprinting			MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Schaaf-Yang syndrome, OMIM:615547;Schaaf-Yang syndrome, MONDO:0014243				30794780;25473036;29599419;31397880;http://igc.otago.ac.nz/home.html		False	3	0;0;0	0.157	False		ENSG00000254585	ENSG00000254585	HGNC:6814													
MEG3	gene	MEG3	Expert Review Green;Literature	Genomic imprinting			MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Temple syndrome, OMIM:616222;Kagami-Ogata syndrome, OMIM:608149				33010492;33746039;33067531;30794780;18271756;http://igc.otago.ac.nz/home.html;29641995		False	3	100;0;0	0.157	False		ENSG00000214548	ENSG00000214548	HGNC:14575													
MEST	gene	MEST	Expert Review Green;Literature	Genomic imprinting			MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Silver-Russell syndrome 2, OMIM:618905				33536359;20082469;30794780;11754049;http://igc.otago.ac.nz/home.html		False	3	100;0;0	0.157	False		ENSG00000106484	ENSG00000106484	HGNC:7028													
MKRN3	gene	MKRN3	Expert Review Green;Imprinting GeCIP Subdomain;Literature	Genomic imprinting			MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Phenotype resulting from under expression: Precocious Puberty Syndrome; Affected tissue: HPA axis				30794780;PMID: 23738509;http://igc.otago.ac.nz/home.html		False	3	0;0;0	0.157	False		ENSG00000179455	ENSG00000179455	HGNC:7114													
NLRP2	gene	NLRP2	Expert Review Green;Imprinting GeCIP Subdomain	Genomic imprinting			BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Oocyte/zygote/embryo maturation arrest 18, OMIM:620332;oocyte/zygote/embryo maturation arrest 18, MONDO:0957230;Beckwith-Wiedemann syndrome due to imprinting defect of 11p15, MONDO:0016475				19300480;30221575;32169557;28422141;28317850;26323243;29574422;30877238;33090377		False	3	0;0;0	0.157	False	Other	ENSG00000022556	ENSG00000022556	HGNC:22948													
NLRP5	gene	NLRP5	Expert Review Green;Imprinting GeCIP Subdomain	Genomic imprinting			BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Oocyte/zygote/embryo maturation arrest 19, OMIM:620333;oocyte/zygote/embryo maturation arrest 19, MONDO:0957231				26323243;31201414;31829238		False	3	0;0;0	0.157	False		ENSG00000171487	ENSG00000171487	HGNC:21269													
NLRP7	gene	NLRP7	Expert Review Green;Imprinting GeCIP Subdomain	Genomic imprinting			BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotype resulting from under expression: Biparental complete hydatidiform mole;Affected tissue: all (incompatible with life);Multi Locus Imprinting Disturbance;hydatidiform mole, recurrent, 1 MONDO:0009273				16462743;19246479;31201414;29574422;28916717		False	3	0;0;0	0.157	False		ENSG00000167634	ENSG00000167634	HGNC:22947													
PADI6	gene	PADI6	Expert Review Green;Literature	Genomic imprinting			BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Preimplantation embryonic lethality 2 OMIM:617234;preimplantation embryonic lethality 2 MONDO:0014978;Beckwith-Wiedemann syndrome;Multi Locus Imprinting Disturbance				32928291;33221824;27545678		False	3	0;100;0	0.157	False		ENSG00000256049	ENSG00000276747	HGNC:20449													
PLAGL1	gene	PLAGL1	Expert Review Green;Literature	Genomic imprinting			MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	"{Diabetes mellitus, transient neonatal 1}	, OMIM:601410"				16928428;7719335;8842729;11935319;17084362;10655556;30794780;http://igc.otago.ac.nz/home.html		False	3	100;0;0	0.157	False		ENSG00000118495	ENSG00000118495	HGNC:9046													
SGCE	gene	SGCE	Expert Review Green;Imprinting GeCIP Subdomain;Literature	Genomic imprinting			MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Phenotype resulting from under expression: upper body myoclonus, dystonia; Affected tissue: brain				30794780;PMID: 25209853; 23365103; 23237735;http://igc.otago.ac.nz/home.html		False	3	0;100;0	0.157	False		ENSG00000127990	ENSG00000127990	HGNC:10808													
SNRPN	gene	SNRPN	Expert Review Green;Literature	Genomic imprinting			MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Prader-Willi syndrome, OMIM:176270				29437285;34200226;34099539;30794780;http://igc.otago.ac.nz/home.html		False	3	100;0;0	0.157	False		ENSG00000128739	ENSG00000128739	HGNC:11164													
UBE3A	gene	UBE3A	Expert Review Green;Imprinting GeCIP Subdomain;Literature	Genomic imprinting			MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Phenotype resulting from under expression: Angelman Syndrome; Affected tissue: brain				  21974935; 18500341]; 2309780;PMID: 9887341;30794780; 12545427; [7795645; 8988171;http://igc.otago.ac.nz/home.html; 8988172		False	3	0;0;0	0.157	False		ENSG00000114062	ENSG00000114062	HGNC:12496													
ZFP57	gene	ZFP57	Expert Review Green;Imprinting GeCIP Subdomain	Genomic imprinting			BIALLELIC, autosomal or pseudoautosomal	Diabetes mellitus, transient neonatal 1 OMIM:601410;diabetes mellitus, transient neonatal, 1MONDO:0011073;IUGR;Multi Locus Imprinting Disturbance				18622393;23150280;25848000		False	3	100;0;0	0.157	False		ENSG00000204644	ENSG00000204644	HGNC:18791