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 Familial diabetes Disorders of unusual phenotypes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Permanent Neonatal Diabetes Mellitus;Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6;Permanent Neonatal Diabetes Mellitus (recessive); Transient Neonatal Diabetes, Dominant False 3 100;0;0 1.69 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000006071 ENSG00000006071 HGNC:59 AGPAT2 gene AGPAT2 Expert Review;Expert Review Green Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal PubMed PMID: 11967537, PubMed PMID: 12765973. False 3 100;0;0 1.69 True ENSG00000169692 ENSG00000169692 HGNC:325 AKT2 gene AKT2 Expert Review Green;NHS GMS Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes mellitus, type II, OMIM:125853;Type 2 diabetes mellitus, MONDO:0005148 17327441;17576055;15166380 False 3 100;0;0 1.69 False ENSG00000105221 ENSG00000105221 HGNC:392 APPL1 gene APPL1 Expert Review Green;NHS GMS Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Maturity-onset diabetes of the young, type 14}, 616511 False 3 100;0;0 1.69 False ENSG00000157500 ENSG00000157500 HGNC:24035 BSCL2 gene BSCL2 Expert Review;Expert Review Green Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 2, OMIM:269700 11479539 False 3 50;0;50 1.69 True ENSG00000168000 ENSG00000168000 HGNC:15832 CEL gene CEL Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Maturity-onset diabetes of the young, type VIII, 609812 16369531;24062244;21784842;19760265;18544793;17989309;27650499;25160620 False 3 67;0;33 1.69 True ENSG00000170835 ENSG00000170835 HGNC:1848 CISD2 gene CISD2 Expert Review Green;NHS GMS Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 2, 604928 25056293;17846994 False 3 100;0;0 1.69 False ENSG00000145354 ENSG00000145354 HGNC:24212 DCAF17 gene DCAF17 Expert Review;Expert Review Green;NHS GMS Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Woodhouse-Sakati syndrome, 241080 19026396;20507343;24464444 False 3 67;0;33 1.69 False ENSG00000115827 ENSG00000115827 HGNC:25784 DNAJC3 gene DNAJC3 Expert Review Green;NHS GMS Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 False 3 100;0;0 1.69 False ENSG00000102580 ENSG00000102580 HGNC:9439 DYRK1B gene DYRK1B Expert Review Green;NHS GMS Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Abdominal obesity-metabolic syndrome 3, 615812 False 3 100;0;0 1.69 False ENSG00000105204 ENSG00000105204 HGNC:3092 EIF2AK3 gene EIF2AK3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus;Wolcott-Rallison syndrome False 3 50;0;50 1.69 True ENSG00000172071 ENSG00000172071 HGNC:3255 FOXP3 gene FOXP3 Expert Review Green;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females False 3 50;0;50 1.69 True ENSG00000049768 ENSG00000049768 HGNC:6106 GATA4 gene GATA4 Expert Review Green;NHS GMS;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PMID: 24696446 False 3 100;0;0 1.69 True ENSG00000136574 ENSG00000136574 HGNC:4173 GATA6 gene GATA6 Expert Review Green;NHS GMS;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PMID: 27098067;26210631;25706805;25708516;25356219;24433315;24310933;23639568;23635550;22962692;22806356;22158542 False 3 100;0;0 1.69 True ENSG00000141448 ENSG00000141448 HGNC:4174 GCK gene GCK Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Maturity-onset diabetes of the young (MODY);Maturity Onset Diabetes of the Young;MODY, type II, 125851;Transient Neonatal Diabetes, Recessive; Permanent Neonatal Diabetes Mellitus (recessive); Maturity Onset Diabetes of the Young (Dominant) False 3 100;0;0 1.69 True ENSG00000106633 ENSG00000106633 HGNC:4195 GLIS3 gene GLIS3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism;Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3 False 3 50;0;50 1.69 True ENSG00000107249 ENSG00000107249 HGNC:28510 HNF1A gene HNF1A Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes mellitus, insulin-dependent, 20, OMIM:612520;{Diabetes mellitus, noninsulin-dependent, 2}, OMIM:125853;MODY, type III, OMIM:600496 False 3 100;0;0 1.69 True ENSG00000135100 ENSG00000135100 HGNC:11621 HNF1B gene HNF1B Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome, 137920 False 3 100;0;0 1.69 True ENSG00000108753 ENSG00000275410 HGNC:11630 HNF4A gene HNF4A Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MODY, type I, 125850;Maturity Onset Diabetes of the Young;OMIM 616026 False 3 100;0;0 1.69 True ENSG00000101076 ENSG00000101076 HGNC:5024 IER3IP1 gene IER3IP1 Expert Review Green;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome 21835305;22991235;24138066 False 3 50;0;50 1.69 True ENSG00000134049 ENSG00000134049 HGNC:18550 INS gene INS Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Maturity Onset Diabetes of the Young;Hyperproinsulinemia, familial, with or without diabetes;Transient Neonatal Diabetes, Dominant/Recessive; Maturity Onset Diabetes of the Young (Dominant) False 3 100;0;0 1.69 True ENSG00000254647 ENSG00000254647 HGNC:6081 INSR gene INSR Expert Review Green;NHS GMS;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes mellitus, insulin-resistant, with acanthosis nigricans;OMIM 610549 PMID: 8288049 False 3 100;0;0 1.69 True ENSG00000171105 ENSG00000171105 HGNC:6091 KCNJ11 gene KCNJ11 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582;Maturity Onset Diabetes of the Young False 3 100;0;0 1.69 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000187486 ENSG00000187486 HGNC:6257 LMNA gene LMNA Expert Review Green;NHS GMS;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 26775134;24002959 False 3 100;0;0 1.69 True ENSG00000160789 ENSG00000160789 HGNC:6636 LRBA gene LRBA Expert Review;Expert Review Green Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity 25468195;26206937;26745254;27057999;25479458 False 3 50;0;50 1.69 True ENSG00000198589 ENSG00000198589 HGNC:1742 MNX1 gene MNX1 Expert Review Green;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal 23562494;24411943;26534984 False 3 50;0;50 1.69 True ENSG00000130675 ENSG00000130675 HGNC:4979 MT-TL1 gene MT-TL1 Expert Review Green;NHS GMS;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders MITOCHONDRIAL MELAS syndrome False 3 100;0;0 1.69 True ENSG00000209082 ENSG00000209082 HGNC:7490 NEUROD1 gene NEUROD1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Maturity Onset Diabetes of the Young;{Diabetes mellitus, noninsulin-dependent}, 125853 26773576;10545951;20573748;26669242 False 3 100;0;0 1.69 True ENSG00000162992 ENSG00000162992 HGNC:7762 NEUROG3 gene NEUROG3 Expert Review Green;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal 26288179;25650326 False 3 50;0;50 1.69 True ENSG00000122859 ENSG00000122859 HGNC:13806 NKX2-2 gene NKX2-2 Expert Review Green;Expert Review Removed;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal 24411943 False 3 50;0;50 1.69 True ENSG00000125820 ENSG00000125820 HGNC:7835 PAX6 gene PAX6 Expert Review Green;NHS GMS Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aniridia, 106210;diabetes False 3 100;0;0 1.69 False ENSG00000007372 ENSG00000007372 HGNC:8620 PCBD1 gene PCBD1 Expert Review;Expert Review Green;NHS GMS Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Hyperphenylalaninemia, BH4-deficient, D 264070" 24204001; 24848070 False 3 67;0;33 1.69 True ENSG00000166228 ENSG00000166228 HGNC:8646 PDX1 gene PDX1 Emory Genetics Laboratory;Expert Review Green;NHS GMS;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Pancreatic agenesis 1 False 3 100;0;0 1.69 True ENSG00000139515 ENSG00000139515 HGNC:6107 PIK3R1 gene PIK3R1 Expert Review;Expert Review Green;NHS GMS Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome 23810378 False 3 100;0;0 1.69 True ENSG00000145675 ENSG00000145675 HGNC:8979 PLIN1 gene PLIN1 Expert Review;Expert Review Green;NHS GMS Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipodystrophy, familial partial, type 4, OMIM:613877 21345103;30020498;11371650;25695774;25114292;29747582 False 3 100;0;0 1.69 True ENSG00000166819 ENSG00000166819 HGNC:9076 POLD1 gene POLD1 Expert Review;Expert Review Green;NHS GMS Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males;Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 23770608 False 3 100;0;0 1.69 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000062822 ENSG00000062822 HGNC:9175 PPARG gene PPARG Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension;Lipodystrophy, familial partial, type 3;Insulin resistance, severe, digenic False 3 100;0;0 1.69 True ENSG00000132170 ENSG00000132170 HGNC:9236 PPP1R15B gene PPP1R15B Expert Review Green;NHS GMS Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and impaired glucose metabolism 2, 616817 False 3 100;0;0 1.69 False ENSG00000158615 ENSG00000158615 HGNC:14951 PTF1A gene PTF1A Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Permanent neonatal diabetes mellitus (PNDM);Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069 False 3 50;0;50 1.69 True ENSG00000168267 ENSG00000168267 HGNC:23734 RFX6 gene RFX6 Expert Review Green;NHS GMS;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Mitchell-Riley syndrome 27185633;27167055;26770845;26761945;26559129;26264437;25048417 False 3 100;0;0 1.69 True ENSG00000185002 ENSG00000185002 HGNC:21478 SLC19A2 gene SLC19A2 Expert Review Green;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270;diabetes mellitus, MONDO:0005015 26839896;26549656 False 3 50;0;50 1.69 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC29A3 gene SLC29A3 Expert Review;Expert Review Green;NHS GMS Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782;Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome 19336477 False 3 100;0;0 1.69 True ENSG00000198246 ENSG00000198246 HGNC:23096 SLC2A2 gene SLC2A2 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal {Diabetes mellitus, noninsulin-dependent};Fanconi-Bickel syndrome PMID: 23456528;22660720;22831748 False 3 50;0;50 1.69 True ENSG00000163581 ENSG00000163581 HGNC:11006 STAT3 gene STAT3 Expert Review Green;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 27167055 False 3 50;0;50 1.69 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000168610 ENSG00000168610 HGNC:11364 TRMT10A gene TRMT10A Expert Review;Expert Review Green;NHS GMS Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal young onset diabetes, short stature and microcephaly with intellectual disability;failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies 24204302; 26297882 False 3 100;0;0 1.69 True ENSG00000145331 ENSG00000145331 HGNC:28403 WFS1 gene WFS1 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Familial diabetes Disorders of unusual phenotypes Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Wolfram syndrome, OMIM:222300 27217304;27185633;33693650 False 3 100;0;0 1.69 False ENSG00000109501 ENSG00000109501 HGNC:12762 ZBTB20 gene ZBTB20 Expert Review;Expert Review Green;NHS GMS Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primrose syndrome, 259050 25017102; 20644156 False 3 67;0;33 1.69 True ENSG00000181722 ENSG00000181722 HGNC:13503 ZFP57 gene ZFP57 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Transient Neonatal Diabetes, Recessive;Diabetes mellitus, transient neonatal, 1, 601410 False 3 100;0;0 1.69 True ENSG00000204644 ENSG00000204644 HGNC:18791 ZMPSTE24 gene ZMPSTE24 Expert Review Green Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia with type B lipodystrophy, 608612 20034068;15317753;16297189;12913070;18435794 False 3 0;0;0 1.69 False ENSG00000084073 ENSG00000084073 HGNC:12877 BLK gene BLK Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity Onset Diabetes of the Young;Maturity-onset diabetes of the young, type 11, 613375 False 1 0;0;100 1.69 True ENSG00000136573 ENSG00000136573 HGNC:1057 IL2RA gene IL2RA Expert Review;Expert Review Red Familial diabetes Disorders of unusual phenotypes Endocrine disorders BIALLELIC, autosomal or pseudoautosomal 17196245 False 1 0;0;100 1.69 False ENSG00000134460 ENSG00000134460 HGNC:6008 KLF11 gene KLF11 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity Onset Diabetes of the Young;Maturity-onset diabetes of the young, type VII, 610508 False 1 0;0;100 1.69 True ENSG00000172059 ENSG00000172059 HGNC:11811 LIPC gene LIPC Expert Review Red;Radboud University Medical Center, Nijmegen Familial diabetes Disorders of unusual phenotypes Endocrine disorders [High density lipoprotein cholesterol level QTL 12], 612797; {Diabetes mellitus, noninsulin-dependent}, 125853; Hepatic lipase deficiency, 614025 False 1 0;0;100 1.69 True ENSG00000166035 ENSG00000166035 HGNC:6619 PAX4 gene PAX4 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity Onset Diabetes of the Young;Maturity-onset diabetes of the young, type IX, 612225 False 1 0;0;100 1.69 True ENSG00000106331 ENSG00000106331 HGNC:8618 STAT1 gene STAT1 Expert Review;Expert Review Red Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 23534974 False 1 0;0;100 1.69 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000115415 ENSG00000115415 HGNC:11362 ISCA-37432-Loss region Expert Review Green;ClinGen Familial diabetes Disorders of unusual phenotypes Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RCAD syndrome;utero-vaginal atresia;Schizophrenia;614527;delayed development, intellectual disability;Renal cysts and diabetes syndrome;Autism Spectrum Disorder;Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females;Chromosome 17q12 deletion syndrome;global developmental delay False 3 0;0;0 1.69 False 17 36458167 37854616 3 60 cnv_loss 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss