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;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital hyperinsulinism Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperinsulinism, Dominant/Recessive;Hyperinsulinemic hypoglycemia, familial, 1, 256450 False 3 100;0;0 3.7 True ENSG00000006071 ENSG00000006071 HGNC:59 AKT2 gene AKT2 Expert Review Green;NHS GMS Congenital hyperinsulinism Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900;Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416 21979934;24285683 False 3 67;33;0 3.7 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000105221 ENSG00000105221 HGNC:392 CACNA1C gene CACNA1C Expert review;Expert Review Green;NHS GMS Congenital hyperinsulinism Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown non-syndromic congeital hyperinsulinism;Timothy syndrome, OMIM:601005;Timothy syndrome, MONDO:0010979;CACNA1C-related disorder 35897673 False 3 100;0;0 3.7 False Other ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1D gene CACNA1D Expert Review Green;NHS GMS Congenital hyperinsulinism Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hyperinsulinaemic hypoglycaemia, heart defects;severe hypotonia 28318089;32336187 False 3 67;0;33 3.7 False ENSG00000157388 ENSG00000157388 HGNC:1391 FOXA2 gene FOXA2 Expert Review Green;NHS GMS Congenital hyperinsulinism Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism;hypopituitarism;Dominant Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities 29329447;28973288 False 3 100;0;0 3.7 False ENSG00000125798 ENSG00000125798 HGNC:5022 GCK gene GCK Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital hyperinsulinism Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism, Dominant;MODY, type II, 125851 False 3 100;0;0 3.7 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000106633 ENSG00000106633 HGNC:4195 GLUD1 gene GLUD1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital hyperinsulinism Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism-hyperammonemia syndrome, 606762;Hyperinsulinism, Dominant False 3 100;0;0 3.7 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000148672 ENSG00000148672 HGNC:4335 GPC3 gene GPC3 Expert Review Green;NHS GMS Congenital hyperinsulinism Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females neonatal hypoglycaemia;distinctive craniofacies, congenital heart defects, genitourinary defects, GI anomalies, skeletal anomalies;supernumerary nipples;X-linked recessive hypoglycaemia as part of Simpson-Golabi-Behmel syndrome (312870) 20301398 False 3 67;0;33 3.7 False ENSG00000147257 ENSG00000147257 HGNC:4451 HADH gene HADH Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital hyperinsulinism Endocrinology BIALLELIC, autosomal or pseudoautosomal Congenital hyperinsulinemic hypoglycemia (HH);Hyperinsulinism, Dominant/Recessive;3-hydroxyacyl-CoA dehydrogenase deficiency, 231530;Protein sensitive hyperinsulinism False 3 100;0;0 3.7 True ENSG00000138796 ENSG00000138796 HGNC:4799 HK1 gene HK1 Expert review;Expert Review Green;NHS GMS Congenital hyperinsulinism Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital hyperinsulinism 36333503;40033430 False 3 100;0;0 3.7 False ENSG00000156515 ENSG00000156515 HGNC:4922 HNF1A gene HNF1A Expert Review;Expert Review Green;NHS GMS Congenital hyperinsulinism Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant Hyperinsulinism;MODY, type III, 600496 22802087 False 3 100;0;0 3.7 True ENSG00000135100 ENSG00000135100 HGNC:11621 HNF4A gene HNF4A Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS Congenital hyperinsulinism Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperinsulinism, Dominant;Autosomal dominant Hyperinsulinism;MODY, type I, 125850 22802087 False 3 100;0;0 3.7 True ENSG00000101076 ENSG00000101076 HGNC:5024 INSR gene INSR Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Congenital hyperinsulinism Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leprechaunism, 246200;hyperinsulinemic hypoglycaemia;Autosomal dominant postprandial hypoglycaemia 15161766 False 3 67;0;33 3.7 True ENSG00000171105 ENSG00000171105 HGNC:6091 KCNJ11 gene KCNJ11 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital hyperinsulinism Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperinsulinism, Dominant/Recessive;Hyperinsulinemic hypoglycemia, familial, 2, 601820 False 3 100;0;0 3.7 True ENSG00000187486 ENSG00000187486 HGNC:6257 KDM6A gene KDM6A Expert Review Green;NHS GMS Congenital hyperinsulinism Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females Kabuki syndrome 2, 300867;X-linked dominant neonatal hypoglycaemia as part of Kabuki syndrome 29907798 False 3 100;0;0 3.7 False ENSG00000147050 ENSG00000147050 HGNC:12637 KMT2D gene KMT2D Expert Review Green;NHS GMS Congenital hyperinsulinism Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 1, 147920;Autosomal dominant neonatal hypoglycaemia as part of Kabuki syndrome 29907798 False 3 100;0;0 3.7 False ENSG00000167548 ENSG00000167548 HGNC:7133 MAGEL2 gene MAGEL2 Expert review;Expert Review Green;NHS GMS Congenital hyperinsulinism Endocrinology MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Schaaf-Yang syndrome, OMIM:615547;Schaaf-Yang syndrome, MONDO:0014243 25473036;29599419;31397880 False 3 100;0;0 3.7 False ENSG00000254585 ENSG00000254585 HGNC:6814 NSD1 gene NSD1 Expert list;Expert Review Green;NHS GMS Congenital hyperinsulinism Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sotos syndrome, OMIM:117550;Sotos syndrome 1, MONDO:0007299 30719864 False 3 100;0;0 3.7 False ENSG00000165671 ENSG00000165671 HGNC:14234 PMM2 gene PMM2 Expert Review Green;NHS GMS Congenital hyperinsulinism Endocrinology BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic Hypoglycaemia;polycystic kidney disease 28373276 False 3 100;0;0 3.7 False ENSG00000140650 ENSG00000140650 HGNC:9115 SLC16A1 gene SLC16A1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Congenital hyperinsulinism Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021 12502513 False 3 100;0;0 3.7 True Other - please provide details in the comments ENSG00000155380 ENSG00000155380 HGNC:10922 UCP2 gene UCP2 Expert list;Expert Review Amber Congenital hyperinsulinism Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism, MONDO:0002177 19065272 False 2 0;100;0 3.7 False ENSG00000175567 ENSG00000175567 HGNC:12518 MAFA gene MAFA NHS GMS Congenital hyperinsulinism Endocrinology False 1 50;0;50 3.7 False ENSG00000182759 ENSG00000182759 HGNC:23145 RYR3 gene RYR3 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital hyperinsulinism Endocrinology No OMIM phenotypeEpileptic encephalopathy (Appenzeller (2014) Am J Hum Genet 95, 360)Hyperinsulinism (Proverbio (2013) PLoS One 8, e68740)Schizophrenia (Fromer (2014) Nature 506, 179)Lennox-Gastaut syndrome (Appenzeller (2014) Am J Hum Genet 95, 360) False 1 0;0;0 3.7 True ENSG00000198838 ENSG00000198838 HGNC:10485 TRMT10A gene TRMT10A Expert Review;Expert Review Red;NHS GMS Congenital hyperinsulinism Endocrinology BIALLELIC, autosomal or pseudoautosomal 25053765 False 1 33;0;67 3.7 True ENSG00000145331 ENSG00000145331 HGNC:28403