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 ACADM gene ACADM Expert list;Expert Review Green Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal "Acyl-CoA dehydrogenase, medium chain, deficiency of MIM# 201450" False 3 100;0;0 1.12 True ENSG00000117054 ENSG00000117054 HGNC:89 ACADVL gene ACADVL Expert list;Expert Review Green Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal "VLCAD deficiency MIM#201475" PMID: 20301763;32885845;31372341 False 3 100;0;0 1.12 True ENSG00000072778 ENSG00000072778 HGNC:92 ALDH7A1 gene ALDH7A1 Expert Review Green;Other Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, pyridoxine-dependent, MIM#266100 PMID: 20301659;33200442 False 3 100;0;0 1.12 True ENSG00000164904 ENSG00000164904 HGNC:877 ALPL gene ALPL Expert List;Expert Review Green Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 1.12 True ENSG00000162551 ENSG00000162551 HGNC:438 ARSB gene ARSB Expert list;Expert Review Green Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VI (MPS6, MIM# 253200 False 3 100;0;0 1.12 False ENSG00000113273 ENSG00000113273 HGNC:714 BCKDHA gene BCKDHA Expert Review Green;Literature Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ia, MIM# 248600 False 3 100;0;0 1.12 True ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Expert Review;Expert Review Green;Literature Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ib, MIM# 248600 False 3 100;0;0 1.12 True ENSG00000083123 ENSG00000083123 HGNC:987 CBS gene CBS Expert list;Expert Review Green Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal Homocystinuria, B6-responsive and nonresponsive types MIM#236200 27778219 False 3 100;0;0 1.12 True ENSG00000160200 ENSG00000160200 HGNC:1550 CD3D gene CD3D Expert List;Expert Review Green Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal primary immunodeficiency;life-threatening infections: recurrent bacterial/viral/ fungal infections;chronic diarrhoea;recurrent respiratory infections;failure to thrive. Immunologic profile shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype.;OMIM: 186790 PMID: 38022338, 36944331, 15729559, 16672702, https://doi.org/10.1016/j.jaci.2022.10.022 False 3 100;0;0 1.12 False ENSG00000167286 ENSG00000167286 HGNC:1673 F9 gene F9 Expert list;Expert Review Green Genomic newborn screening: ICoNS Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Haemophilia B, MIM# 306900 20301668;32809627 False 3 100;0;0 1.12 True ENSG00000101981 ENSG00000101981 HGNC:3551 GALK1 gene GALK1 Expert Review;Expert Review Green Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal Galactokinase deficiency with cataracts MIM#230200 32807972 False 3 100;0;0 1.12 True ENSG00000108479 ENSG00000108479 HGNC:4118 GAMT gene GAMT Expert Review;Expert Review Green Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal Creberal creatine deficiency syndrome 2 (MIM 612736) 36856349;28055022;28055022 False 3 100;0;0 1.12 True ENSG00000130005 ENSG00000130005 HGNC:4136 LHX3 gene LHX3 Expert Review Green;Literature Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3 (MIM#221750) False 3 100;0;0 1.12 True ENSG00000107187 ENSG00000107187 HGNC:6595 PAH gene PAH Expert list;Expert Review Green Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal Phenylketonuria MIM#261600 PMID: 39630157;40378670 False 3 100;0;0 1.12 False ENSG00000171759 ENSG00000171759 HGNC:8582 RPL11 gene RPL11 Expert Review Green;Literature Genomic newborn screening: ICoNS Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 7 19773262, 20301769 False 3 100;0;0 1.12 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPL5 gene RPL5 ClinGen;Expert Review Green;Literature Genomic newborn screening: ICoNS Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 6 19773262 False 3 100;0;0 1.12 True ENSG00000122406 ENSG00000122406 HGNC:10360 RPS17 gene RPS17 ClinGen;Expert Review Green;Literature Genomic newborn screening: ICoNS Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 4 20301769 False 3 100;0;0 1.12 False ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert Review;Expert Review Green Genomic newborn screening: ICoNS Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan Anemia 20301769;30503522 False 3 100;0;0 1.12 True ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert Review Green;Literature Genomic newborn screening: ICoNS Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-blackfan anemia 3 39568018, 17186470, 25946618 False 3 100;0;0 1.12 False ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert Review Green;Literature Genomic newborn screening: ICoNS Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 10 20301769, 30503522 False 3 100;0;0 1.12 True ENSG00000197728 ENSG00000197728 HGNC:10414 TCN2 gene TCN2 Expert list;Expert Review Green Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency, MIM#275350 PMID: 24305960 False 3 100;0;0 1.12 True ENSG00000185339 ENSG00000185339 HGNC:11653 ZAP70 gene ZAP70 Expert List;Expert Review Green Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency MIM#176947 PMID: 20301777;32579701 False 3 100;0;0 1.12 True ENSG00000115085 ENSG00000115085 HGNC:12858 ABCC8 gene ABCC8 Expert list;Expert Review Amber Genomic newborn screening: ICoNS Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes mellitus, permanent neonatal 3 MIM# 618857 PMID: 20301620;32027066;20922570;16885549 False 2 50;50;0 1.12 True ENSG00000006071 ENSG00000006071 HGNC:59 CYP21A2 gene CYP21A2 Expert Review Amber;Other Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency False 2 100;0;0 1.12 True Other ENSG00000231852 ENSG00000231852 HGNC:2600 GLA gene GLA ClinGen;Expert Review Amber;Literature Genomic newborn screening: ICoNS Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease (MIM 301500);Fabry disease, cardiac variant (MIM 301500) 28613767;37259462 False 2 0;0;0 1.12 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000102393 ENSG00000102393 HGNC:4296 KCNJ11 gene KCNJ11 Expert Review Amber;Other Genomic newborn screening: ICoNS Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes mellitus, transient neonatal, 3 610582 Diabetes, permanent neonatal, with or without neurologic features 606176 Hyperinsulinemic hypoglycemia, familial, 2 601820 PMID: 28824061;PMID: 32027066;PMID: 21674179;PMID: 38226203;PMID: 26908106 False 2 0;50;50 1.12 True ENSG00000187486 ENSG00000187486 HGNC:6257 MYH7 gene MYH7 Expert Review;Expert Review Amber Genomic newborn screening: ICoNS Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1S;Cardiomyopathy, hypertrophic, 1;Congenital myopathy 7A, myosin storage, autosomal dominant;Congenital myopathy 7B, myosin storage, autosomal recessive;Laing distal myopathy;Left ventricular noncompaction 5 doi.org/10.1016/j.jacc.2022.07.023;doi.org/10.1038/gim.2017.218 False 2 50;50;0 1.12 True Other ENSG00000092054 ENSG00000092054 HGNC:7577 ACAT1 gene ACAT1 Expert List Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal Alpha-methylacetoacetic aciduria, MIM#203750;Beta-ketothiolase deficiency MONDO:0008760 False 1 0;0;0 1.12 False ENSG00000075239 ENSG00000075239 HGNC:93 AK2 gene AK2 Expert list Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal False 1 0;100;0 1.12 False ENSG00000004455 ENSG00000004455 HGNC:362 SLC25A13 gene SLC25A13 Expert List Genomic newborn screening: ICoNS Screening BIALLELIC, autosomal or pseudoautosomal Citrullinemia, type II, neonatal-onset, MIM# 605814 18367750, 10369257, 19036621, 18392553, 21914561, 11343052, 11343053, 31607264 False 1 0;0;0 1.12 False ENSG00000004864 ENSG00000004864 HGNC:10983