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 ABCC8 gene ABCC8 Expert Review Green;Victorian Clinical Genetics Services Hyperinsulinism Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes mellitus, noninsulin-dependent MIM#125853;Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857;Diabetes mellitus, transient neonatal 2 MIM#610374;Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450;Hypoglycemia of infancy, leucine-sensitive MIM#240800 Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 21054355;32027066;32376986 False 3 100;0;0 1.30 True ENSG00000006071 ENSG00000006071 HGNC:59 CREBBP gene CREBBP Expert Review Green;Literature Hyperinsulinism Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 1, OMIM #180849 Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 31137009;33442921;2240025;31414570;33043588 False 3 100;0;0 1.30 True ENSG00000005339 ENSG00000005339 HGNC:2348 EP300 gene EP300 Expert Review Green;Literature Hyperinsulinism Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 2, OMIM #613684 Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 31137009;33442921;2240025;31414570;33043588 False 3 100;0;0 1.30 True ENSG00000100393 ENSG00000100393 HGNC:3373 FOXA2 gene FOXA2 Expert list;Expert Review Green Hyperinsulinism Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinaemia Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 29329447;28973288;11445544 False 3 100;0;0 1.30 True ENSG00000125798 ENSG00000125798 HGNC:5022 GCK gene GCK Expert Review Green;Victorian Clinical Genetics Services Hyperinsulinism Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853);Diabetes mellitus, permanent neonatal 1, AR (MIM#606176);Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485);MODY, type II, AD (MIM#125851) Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 19790256 False 3 100;0;0 1.30 True ENSG00000106633 ENSG00000106633 HGNC:4195 GLUD1 gene GLUD1 Expert Review Green;Victorian Clinical Genetics Services Hyperinsulinism Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism-hyperammonemia syndrome, MIM# 606762 Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 11214910;11297618 False 3 100;0;0 1.30 True ENSG00000148672 ENSG00000148672 HGNC:4335 HADH gene HADH Expert Review Green;Victorian Clinical Genetics Services Hyperinsulinism Endocrine disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530;Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975 Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 False 3 100;0;0 1.30 True ENSG00000138796 ENSG00000138796 HGNC:4799 HK1 gene HK1 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Hyperinsulinism Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism MONDO:0002177, HK1-related Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 23859901;36333503 False 3 50;0;50 1.30 True ENSG00000156515 ENSG00000156515 HGNC:4922 HNF1A gene HNF1A Expert Review Green;Victorian Clinical Genetics Services Hyperinsulinism Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes mellitus, insulin-dependent, 20, MIM# 612520;MODY, type III , MIM#600496 Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 9097962;9112026 False 3 100;0;0 1.30 True ENSG00000135100 ENSG00000135100 HGNC:11621 HNF4A gene HNF4A Expert Review Green;Victorian Clinical Genetics Services Hyperinsulinism Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026;MODY, type I, OMIM # 125850 Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 31875549;24285859;22802087;30005691;28458902 False 3 100;0;0 1.30 True ENSG00000101076 ENSG00000101076 HGNC:5024 INSR gene INSR Expert Review;Expert Review Green Hyperinsulinism Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968" Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 15161766;26691667;31989990 False 3 100;0;0 1.30 True ENSG00000171105 ENSG00000171105 HGNC:6091 KCNJ11 gene KCNJ11 Expert Review Green;Victorian Clinical Genetics Services Hyperinsulinism Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Diabetes mellitus, type 2, susceptibility to} 125853;Diabetes mellitus, transient neonatal, 3 610582;Diabetes, permanent neonatal, with or without neurologic features 606176;Hyperinsulinemic hypoglycemia, familial, 2 601820;Maturity-onset diabetes of the young, type 13 616329 AD Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 18250167;11395395;23275527;23345197 False 3 100;0;0 1.30 True ENSG00000187486 ENSG00000187486 HGNC:6257 KDM6A gene KDM6A Expert list;Expert Review Green Hyperinsulinism Endocrine disorders Other "Kabuki syndrome 2, MIM# 300867" Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 False 3 100;0;0 1.30 True ENSG00000147050 ENSG00000147050 HGNC:12637 KMT2D gene KMT2D Expert Review;Expert Review Green;Victorian Clinical Genetics Services Hyperinsulinism Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Kabuki syndrome 1, MIM# 147920" Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 29907798 False 3 100;0;0 1.30 True ENSG00000167548 ENSG00000167548 HGNC:7133 MAFA gene MAFA Expert Review Green;Literature Hyperinsulinism Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Insulinomatosis and diabetes mellitus, OMIM #:147630 Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 PMID: 29339498 False 3 100;0;0 1.30 True ENSG00000182759 ENSG00000182759 HGNC:23145 MAGEL2 gene MAGEL2 Expert list;Expert Review Green Hyperinsulinism Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) "Schaaf-Yang syndrome, MIM# 615547" Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 25473036;29599419;31397880 False 3 100;0;0 1.30 True ENSG00000254585 ENSG00000254585 HGNC:6814 MEN1 gene MEN1 Expert Review;Expert Review Green Hyperinsulinism Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Insulinoma;Multiple endocrine neoplasia 1, MIM# 131100 Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 20301710 False 3 100;0;0 1.30 True ENSG00000133895 ENSG00000133895 HGNC:7010 MPI gene MPI Expert Review;Expert Review Green;Victorian Clinical Genetics Services Hyperinsulinism Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, MIM# 602579 Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 PMID: 29531722;0980531;12414827;9585601;10980531;33098580;33204592;32905087;32266963;30242110 False 3 50;50;0 1.30 True ENSG00000178802 ENSG00000178802 HGNC:7216 NSD1 gene NSD1 Expert Review Green;Literature Hyperinsulinism Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sotos syndrome (OMIM#117550) Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 30719864 False 3 100;0;0 1.30 True ENSG00000165671 ENSG00000165671 HGNC:14234 PGM1 gene PGM1 Expert Review Green;Literature Hyperinsulinism Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type It, OMIM# 614921 Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 24499211;27206562 False 3 100;0;0 1.30 True ENSG00000079739 ENSG00000079739 HGNC:8905 PMM2 gene PMM2 Expert Review;Expert Review Green Hyperinsulinism Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Polycystic Kidney Disease;Hyperinsulinemic Hypoglycemia Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 PMID: 28373276 False 3 50;50;0 1.30 True Other ENSG00000140650 ENSG00000140650 HGNC:9115 SLC16A1 gene SLC16A1 Expert Review Green;Victorian Clinical Genetics Services Hyperinsulinism Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythrocyte lactate transporter defect, MIM# 245340;Hyperinsulinemic hypoglycaemia, familial, 7, MIM# 610021;Monocarboxylate transporter 1 deficiency, MIM# 616095 Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 25390740;32170320 False 3 100;0;0 1.30 True ENSG00000155380 ENSG00000155380 HGNC:10922 SLC25A36 gene SLC25A36 Expert Review Green;Literature Hyperinsulinism Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211 Hyperinsulinaemia;HP:0000842;Hypoglycemia;HP:0001943 34971397;34576089;31036718 False 3 100;0;0 1.30 True ENSG00000114120 ENSG00000114120 HGNC:25554