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;Royal Melbourne Hospital Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Maturity-onset diabetes of the young, type 12, MIM# 621196 21989597;34014594 False 3 100;0;0 0.99 True ENSG00000006071 ENSG00000006071 HGNC:59 APOB gene APOB Expert Review Green;Victorian Clinical Genetics Services Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypercholesterolemia, autosomal dominant, type B MONDO:0007751 24404629 False 3 100;0;0 0.99 True Other ENSG00000084674 ENSG00000084674 HGNC:603 CALM1 gene CALM1 Expert list;Expert Review Green Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular tachycardia, catecholaminergic polymorphic, 4, MIM# 614916 False 3 100;0;0 0.99 True ENSG00000198668 ENSG00000198668 HGNC:1442 CALM2 gene CALM2 Expert list;Expert Review Green Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 False 3 100;0;0 0.99 True ENSG00000143933 ENSG00000143933 HGNC:1445 CASQ2 gene CASQ2 Expert list;Expert Review Green Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938 False 3 100;0;0 0.99 True ENSG00000118729 ENSG00000118729 HGNC:1513 CEL gene CEL Expert Review Green;Royal Melbourne Hospital Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Maturity-onset diabetes of the young, type VIII, 609812 24062244;21784842;19760265;18544793;17989309;16369531;29233499;27650499;33862081;37726640;38483348 False 3 67;33;0 0.99 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000170835 ENSG00000170835 HGNC:1848 COL3A1 gene COL3A1 Expert list;Expert Review Green Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, vascular type, MIM# 130050 False 3 100;0;0 0.99 True ENSG00000168542 ENSG00000168542 HGNC:2201 DMD gene DMD Expert Review;Expert Review Green Genomic screening in children: BabyScreen+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Duchenne muscular dystrophy MIM#310200 False 3 100;0;0 0.99 True ENSG00000198947 ENSG00000198947 HGNC:2928 DSC2 gene DSC2 Expert list;Expert Review Green Genomic screening in children: BabyScreen+ Screening BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 11, MIM# 610476;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476 False 3 100;0;0 0.99 True ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 Expert list;Expert Review Green Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 10, MIM# 610193 False 3 100;0;0 0.99 True ENSG00000046604 ENSG00000046604 HGNC:3049 DSP gene DSP Expert list;Expert Review Green Genomic screening in children: BabyScreen+ Screening BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 False 3 100;0;0 0.99 True ENSG00000096696 ENSG00000096696 HGNC:3052 GCK gene GCK Expert Review Green;Royal Melbourne Hospital Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MODY, type II, AD (MIM#125851) 19790256 False 3 100;0;0 0.99 True ENSG00000106633 ENSG00000106633 HGNC:4195 HGD gene HGD Expert list;Expert Review Green Genomic screening in children: BabyScreen+ Screening BIALLELIC, autosomal or pseudoautosomal Alkaptonuria MIM#203500 False 3 100;0;0 0.99 True ENSG00000113924 ENSG00000113924 HGNC:4892 HNF1A gene HNF1A Expert list;Expert Review Green Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MODY, type III , MIM#600496 False 3 100;0;0 0.99 True ENSG00000135100 ENSG00000135100 HGNC:11621 HNF1B gene HNF1B Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome, 137920 False 3 100;0;0 0.99 True ENSG00000108753 ENSG00000275410 HGNC:11630 HNF4A gene HNF4A Expert list;Expert Review Green Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MODY, type I, OMIM # 125850 False 3 100;0;0 0.99 True ENSG00000101076 ENSG00000101076 HGNC:5024 INS gene INS Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Genomic screening in children: BabyScreen+ Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal monogenic diabetes MONDO:0015967 18162506;9884331 False 3 100;0;0 0.99 True ENSG00000254647 ENSG00000254647 HGNC:6081 JUP gene JUP Expert list;Expert Review Green Genomic screening in children: BabyScreen+ Screening BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 12 MIM# 611528;Naxos disease MIM# 601214 False 3 100;0;0 0.99 True ENSG00000173801 ENSG00000173801 HGNC:6207 KCNJ11 gene KCNJ11 Expert Review Green;Literature Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Monogenic diabetes MONDO:0015967, KCNJ11-related 32027066;32376986 False 3 100;0;0 0.99 True ENSG00000187486 ENSG00000187486 HGNC:6257 LAMP2 gene LAMP2 Expert Review;Expert Review Green Genomic screening in children: BabyScreen+ Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease, MIM# 300257 False 3 100;0;0 0.99 True ENSG00000005893 ENSG00000005893 HGNC:6501 LDLR gene LDLR Expert Review;Expert Review Green Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolemia, familial, 1, MIM# 143890 False 3 100;0;0 0.99 True ENSG00000130164 ENSG00000130164 HGNC:6547 LDLRAP1 gene LDLRAP1 Expert Review Green;Victorian Clinical Genetics Services Genomic screening in children: BabyScreen+ Screening BIALLELIC, autosomal or pseudoautosomal Hypercholesterolemia, familial, 4, MIM# 603813 4351242 False 3 100;0;0 0.99 True ENSG00000157978 ENSG00000157978 HGNC:18640 LOX gene LOX Expert Review;Expert Review Green Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 10, MIM#617168 False 3 100;0;0 0.99 True ENSG00000113083 ENSG00000113083 HGNC:6664 MEN1 gene MEN1 Expert Review;Expert Review Green Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia 1, MIM#131100 False 3 100;0;0 0.99 True ENSG00000133895 ENSG00000133895 HGNC:7010 MYH11 gene MYH11 Expert list;Expert Review Green Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 4, MIM#160745 False 3 100;0;0 0.99 True ENSG00000133392 ENSG00000133392 HGNC:7569 NEUROD1 gene NEUROD1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Maturity-onset diabetes of the young 6, MIM#606394 25477324;25684977;22784109;29521454 False 3 100;0;0 0.99 True ENSG00000162992 ENSG00000162992 HGNC:7762 PCSK9 gene PCSK9 Expert Review Green;Victorian Clinical Genetics Services Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypercholesterolemia, autosomal dominant, 3 MONDO:0011369 24404629;16577715;15654334 False 3 100;0;0 0.99 True Other ENSG00000169174 ENSG00000169174 HGNC:20001 PKP2 gene PKP2 BabySeq Category B gene;Expert Review Green Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 False 3 100;0;0 0.99 True ENSG00000057294 ENSG00000057294 HGNC:9024 PRKG1 gene PRKG1 ClinGen;Expert Review Green Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 8, MIM#615436 False 3 100;0;0 0.99 True ENSG00000185532 ENSG00000185532 HGNC:9414 RFX6 gene RFX6 Expert list;Expert Review Green;Victorian Clinical Genetics Services Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted monogenic diabetes MONDO:0015967 20148032;25048417;27185633;29026101;31001871;36208030 False 3 100;0;0 0.99 True ENSG00000185002 ENSG00000185002 HGNC:21478 SCN5A gene SCN5A BabySeq Category B gene;BeginNGS;Expert Review Green Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 3 (MIM#603830);Brugada syndrome 1, MIM# 601144 False 3 100;0;0 0.99 True ENSG00000183873 ENSG00000183873 HGNC:10593 STK11 gene STK11 Expert list;Expert Review Green Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Peutz-Jeghers syndrome MIM#175200 False 3 100;0;0 0.99 True ENSG00000118046 ENSG00000118046 HGNC:11389 TECRL gene TECRL Expert list;Expert Review Green Genomic screening in children: BabyScreen+ Screening BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021 False 3 100;0;0 0.99 True ENSG00000205678 ENSG00000205678 HGNC:27365 TNFRSF11B gene TNFRSF11B Expert list;Expert Review Green Genomic screening in children: BabyScreen+ Screening BIALLELIC, autosomal or pseudoautosomal Paget disease of bone 5, juvenile-onset MIM#239000 PMID: 29080812;25108083;34166796 False 3 100;0;0 0.99 True ENSG00000164761 ENSG00000164761 HGNC:11909 TRDN gene TRDN Expert list;Expert Review Green Genomic screening in children: BabyScreen+ Screening BIALLELIC, autosomal or pseudoautosomal Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441 False 3 100;0;0 0.99 False ENSG00000186439 ENSG00000186439 HGNC:12261 AIP gene AIP Expert List Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pituitary adenoma predisposition MIM#102200 False 1 100;0;0 0.99 False ENSG00000110711 ENSG00000110711 HGNC:358 APC gene APC Expert Review Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adenomatous polyposis coli MIM#175100 False 1 100;0;0 0.99 False ENSG00000134982 ENSG00000134982 HGNC:583 CDC73 gene CDC73 Expert List Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperparathyroidism-jaw tumor syndrome MIM#145001 False 1 100;0;0 0.99 False ENSG00000134371 ENSG00000134371 HGNC:16783 NF2 gene NF2 Expert List Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Schwannomatosis, vestibular MIM#101000" False 1 100;0;0 0.99 False ENSG00000186575 ENSG00000186575 HGNC:7773 SMARCAL1 gene SMARCAL1 Expert list Genomic screening in children: BabyScreen+ Screening BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia MIM#242900 PMID: 20301550 False 1 100;0;0 0.99 False ENSG00000138375 ENSG00000138375 HGNC:11102 SPTLC1 gene SPTLC1 Expert list Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 27, juvenile MIM#620285 PMID: 34059824 False 1 100;0;0 0.99 False ENSG00000090054 ENSG00000090054 HGNC:11277 TTN gene TTN Expert list Genomic screening in children: BabyScreen+ Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, dilated, 1G MIM#604145" PMID: 22335739;40796136 False 1 0;100;0 0.99 False ENSG00000155657 ENSG00000155657 HGNC:12403 VWF gene VWF Expert list Genomic screening in children: BabyScreen+ Screening BIALLELIC, autosomal or pseudoautosomal von Willebrand disease, type 3 MIM#277480 False 1 0;100;0 0.99 False ENSG00000110799 ENSG00000110799 HGNC:12726 ZBTB24 gene ZBTB24 Expert list;Expert Review Red Genomic screening in children: BabyScreen+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069 PMID: 28128455, 21906047, 21596365, 23486536 False 1 0;100;0 0.99 True ENSG00000112365 ENSG00000112365 HGNC:21143