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;Genomics England PanelApp Imprinting disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Affected tissue: all;Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome;Phenotypes resulting from gene over expression: IMAGE syndrome;Silver-Russell Syndrome 10424811;8841187;22205991;20503313;19843502;15372379;23511928;30794780;33076988;31976094;31497289 False 3 100;0;0 1.3 True ENSG00000129757 ENSG00000129757 HGNC:1786 GNAS gene GNAS Expert Review Green;Genomics England PanelApp Imprinting disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Affected tissue: kidney, bone, brain;pseudopseudohypoparathyroidism;Phenotype resulting from under expression: Pseudohypoparathyroidism Type 1a, MIM# 103580;Albright hereditary osteodystrophy 15331575;10980525;11406605;12024005;15800843;15181091;9506752;12024004;15592469;15592469;11788646;1944469;2109828;30794780 False 3 100;0;0 1.3 True ENSG00000087460 ENSG00000087460 HGNC:4392 IGF2 gene IGF2 Expert Review Green;Genomics England PanelApp Imprinting disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Affected tissue: all;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 3, MIM #616489 26154720;31544945 False 3 100;0;0 1.3 True ENSG00000167244 ENSG00000167244 HGNC:5466 KCNK9 gene KCNK9 Expert Review Green;Genomics England PanelApp Imprinting disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotype resulting from under expression: mental retardation, hypotonia, dysmprophism;Affected tissue: brain;Birk-Barel syndrome, MIM# 612292;MONDO:0012856 24667089;18678320;30794780;28333430;27151206;24980697 False 3 100;0;0 1.3 True ENSG00000169427 ENSG00000169427 HGNC:6283 KHDC3L gene KHDC3L Expert Review Green;Literature Imprinting disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hydatiform mole recurrent 2 MIM#614293 23232697;31847873;23125094;21885028 False 3 100;0;0 1.3 True ENSG00000203908 ENSG00000203908 HGNC:33699 MAGEL2 gene MAGEL2 Expert Review Green;Literature Imprinting disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Schaaf-Yang syndrome, MIM# 615547;Chitayat-Hall Syndrome 24076603;31397880;29599419;30302899 False 3 100;0;0 1.3 True ENSG00000254585 ENSG00000254585 HGNC:6814 MKRN3 gene MKRN3 Expert Review Green;Genomics England PanelApp Imprinting disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Phenotype resulting from under expression: Precocious Puberty Syndrome;Affected tissue: HPA axis 23738509;30794780;32480405;33214675;31041429;32407292 False 3 100;0;0 1.3 True ENSG00000179455 ENSG00000179455 HGNC:7114 NLRP2 gene NLRP2 Expert Review Green;Genomics England PanelApp Imprinting disorders 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;Early embryonic arrest;Multi locus imprinting disturbance in offspring 26323243;29574422;32169557;28317850;30221575;30877238;33090377;19300480;28422141 False 3 100;0;0 1.3 True Other ENSG00000022556 ENSG00000022556 HGNC:22948 NLRP5 gene NLRP5 Expert Review Green;Genomics England PanelApp Imprinting disorders BOTH monoallelic and biallelic, 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;29574422;30877238;32222962;34440388 False 3 100;0;0 1.3 True ENSG00000171487 ENSG00000171487 HGNC:21269 NLRP7 gene NLRP7 Expert Review Green;Genomics England PanelApp Imprinting disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Affected tissue: all (incompatible with life);hydatidiform mole, recurrent, 1 MONDO:0009273;Phenotype resulting from under expression: Biparental complete hydatidiform mole;Multi Locus Imprinting Disturbance 28916717;31201414;16462743;28561018;29574422;19246479;22315435;19066229;23722513;23125094 False 3 100;0;0 1.3 True ENSG00000167634 ENSG00000167634 HGNC:22947 PADI6 gene PADI6 Expert Review Green;Genomics England PanelApp Imprinting disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Preimplantation embryonic lethality 2 OMIM:617234;preimplantation embryonic lethality 2 MONDO:0014978;Multi Locus Imprinting Disturbance;Beckwith-Wiedemann syndrome 27545678;33221824;32928291 False 3 100;0;0 1.3 True ENSG00000256049 ENSG00000276747 HGNC:20449 SGCE gene SGCE Expert Review Green;Genomics England PanelApp Imprinting disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Affected tissue: brain;Phenotype resulting from under expression: upper body myoclonus, dystonia;Dystonia-11, myoclonic, MIM# 159900 MONDO:0008044 16227522;20301587;33200041;25209853;23237735;23365103;30794780;11528394;12325078;17200151 False 3 100;0;0 1.3 True ENSG00000127990 ENSG00000127990 HGNC:10808 STX16 gene STX16 Expert Review Green;Literature Imprinting disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Pseudohypoparathyroidism type 1b MIM no: 603233 PMID: 1456170;15579741;15800843;33320452;32337648;33247854;29959430 False 3 100;0;0 1.3 True ENSG00000124222 ENSG00000124222 HGNC:11431 UBE3A gene UBE3A Expert Review Green;Genomics England PanelApp Imprinting disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Affected tissue: brain;Phenotype resulting from under expression: Angelman Syndrome 12545427;8988172;http://igc.otago.ac.nz/home.html;18500341];8988171;21974935;2309780;PMID: 9887341;[7795645;30794780 False 3 100;0;0 1.3 False ENSG00000114062 ENSG00000114062 HGNC:12496 ZFP57 gene ZFP57 Expert Review Green;Genomics England PanelApp Imprinting disorders BIALLELIC, autosomal or pseudoautosomal IUGR;Diabetes mellitus, transient neonatal 1 OMIM:601410;Multi Locus Imprinting Disturbance;diabetes mellitus, transient neonatal, 1MONDO:0011073 25848000;18622393;27075368;23150280;30315371;31399135;33053156 False 3 100;0;0 1.3 True ENSG00000204644 ENSG00000204644 HGNC:18791 KCNQ1 gene KCNQ1 Expert Review Amber;Literature Imprinting disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Beckwith-Wiedemann Syndrome 30635621;32393365;30778172 False 2 0;100;0 1.3 True ENSG00000053918 ENSG00000053918 HGNC:6294 KCNQ1OT1 gene KCNQ1OT1 Expert Review Amber;Genomics England PanelApp Imprinting disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Beckwith-Wiedemann syndrome OMIM:130650;Russell-Silver Syndrome 22205991;15372379;23511928;30794780;29377879;10220444;32447323;33177595;29047350 False 2 0;100;0 1.3 True ENSG00000269821 ENSG00000269821 HGNC:6295 TLE6 gene TLE6 Expert Review Amber;Literature Imprinting disorders BIALLELIC, autosomal or pseudoautosomal Pre-implantation embryonic lethality MIM#616814 26537248;25542835 False 2 0;100;0 1.3 True ENSG00000104953 ENSG00000104953 HGNC:30788 GNAS-AS1 gene GNAS-AS1 Expert Review Red;Literature Imprinting disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Pseudohypoparathyroidism type 1b MIM no: 603233 PMID: 22378814;15592469;29959430;25005734 False 1 0;0;100 1.3 True ENSG00000235590 ENSG00000235590 HGNC:24872 H19 gene H19 Expert Review Red;Genomics England PanelApp Imprinting disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation);Affected tissue: all;Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome PMID: 20007505;15743916;23118352;[21863054;21571108;18245780];24916376;25943194 False 1 0;0;100 1.3 True ENSG00000130600 ENSG00000130600 HGNC:4713 L3MBTL1 gene L3MBTL1 Expert Review Red;Genomics England PanelApp Imprinting disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Affected tissue: myeloid lineages;Phenotype resulting from under expression: lymphoid malignancy 23543057;15123827;30794780 False 1 0;0;100 1.3 True ENSG00000185513 ENSG00000185513 HGNC:15905 OOEP gene OOEP Expert Review Red;Literature Imprinting disorders BIALLELIC, autosomal or pseudoautosomal Multi locus imprinting disturbance in offspring 29574422 False 1 0;50;50 1.3 True ENSG00000203907 ENSG00000203907 HGNC:21382 UHRF1 gene UHRF1 Expert Review Red;Literature Imprinting disorders BIALLELIC, autosomal or pseudoautosomal Multi locus imprinting disturbance in offspring 29574422;28976982 False 1 0;50;50 1.3 True ENSG00000034063 ENSG00000276043 HGNC:12556 ZAR1 gene ZAR1 Expert Review Red;Literature Imprinting disorders BIALLELIC, autosomal or pseudoautosomal Multi locus imprinting disturbance in offspring 29574422;31598710;12539046 False 1 0;50;50 1.3 True ENSG00000182223 ENSG00000182223 HGNC:20436 ZNF445 gene ZNF445 Expert Review Red;Literature Imprinting disorders BIALLELIC, autosomal or pseudoautosomal Temple syndrome;Multi locus imprinting disturbance (MLID) PMID: 34039421;30602440;30846001 False 1 0;50;50 1.3 True ENSG00000185219 ENSG00000185219 HGNC:21018