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 KHDC3L gene KHDC3L Expert Review Green;Imprinting GeCIP Subdomain Multi locus imprinting disorders Endocrinology 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 1.6 False ENSG00000203908 ENSG00000203908 HGNC:33699 NLRP2 gene NLRP2 Expert Review Green;Imprinting GeCIP Subdomain Multi locus imprinting disorders Endocrinology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 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 1.6 False Other ENSG00000022556 ENSG00000022556 HGNC:22948 NLRP5 gene NLRP5 Expert Review Green;Imprinting GeCIP Subdomain Multi locus imprinting disorders Endocrinology 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, Beckwith-Wiedemann Syndrome, Multi-locus imprinting disorder;Affected tissue: all 26323243;31201414;31829238 False 3 0;0;0 1.6 False ENSG00000171487 ENSG00000171487 HGNC:21269 NLRP7 gene NLRP7 Expert Review Green;Imprinting GeCIP Subdomain Multi locus imprinting disorders Endocrinology 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 1.6 False ENSG00000167634 ENSG00000167634 HGNC:22947 PADI6 gene PADI6 Expert Review Green;Literature Multi locus imprinting disorders Endocrinology 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 1.6 False ENSG00000256049 ENSG00000276747 HGNC:20449 GRB10 gene GRB10 Expert Review Amber;Literature Multi locus imprinting disorders Endocrinology MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Silver-Russell syndrome 2, OMIM:618905 10861285;10856193;27370225;10856193;11112662;30794780;http://igc.otago.ac.nz/home.html False 2 100;0;0 1.6 False ENSG00000106070 ENSG00000106070 HGNC:4564 PLAGL1 gene PLAGL1 Expert Review Amber;Literature Multi locus imprinting disorders Endocrinology 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 2 100;0;0 1.6 False ENSG00000118495 ENSG00000118495 HGNC:9046