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 ABCC9 gene ABCC9 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ABCC9 associated hypertrichotic osteochondrodysplasia False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000069431 ENSG00000069431 HGNC:60 ABCG5 gene ABCG5 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Sitosterolemia 1 False 2 0;0;0 0.508 False ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Sitosterolemia 2 False 2 0;0;0 0.508 False ENSG00000143921 ENSG00000143921 HGNC:13887 ACVR1 gene ACVR1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fibrodysplasia ossificans progressiva False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000115170 ENSG00000115170 HGNC:171 ADAR gene ADAR Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, autosomal recessive False 2 0;0;0 0.508 False ENSG00000160710 ENSG00000160710 HGNC:225 AHCY gene AHCY Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase False 2 0;0;0 0.508 False ENSG00000101444 ENSG00000101444 HGNC:343 AKT2 gene AKT2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypoinsulinemic hypoglycemia False 2 0;0;0 0.508 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 ALAD gene ALAD Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Porphyria, acute hepatic False 2 0;0;0 0.508 False ENSG00000148218 ENSG00000148218 HGNC:395 ALAS2 gene ALAS2 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, 1 False 2 0;0;0 0.508 False ENSG00000158578 ENSG00000158578 HGNC:397 ALDH4A1 gene ALDH4A1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type II False 2 0;0;0 0.508 False ENSG00000159423 ENSG00000159423 HGNC:406 ALK gene ALK Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ALK-related neuroblastic tumor susceptibility False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171094 ENSG00000171094 HGNC:427 APOE gene APOE Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Apolipoprotein (apo) E Leu167del variant False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000130203 ENSG00000130203 HGNC:613 APPL1 gene APPL1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity-onset diabetes of the young, type 14 False 2 0;0;0 0.508 False ENSG00000157500 ENSG00000157500 HGNC:24035 ARMC5 gene ARMC5 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACTH-independent macronodular adrenal hyperplasia 2 False 2 0;0;0 0.508 False ENSG00000140691 ENSG00000140691 HGNC:25781 ATP7A gene ATP7A Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease False 2 0;0;0 0.508 False ENSG00000165240 ENSG00000165240 HGNC:869 BCL10 gene BCL10 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal immunodeficiency 37 False 2 0;0;0 0.508 False ENSG00000142867 ENSG00000142867 HGNC:989 BRCA1 gene BRCA1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group S False 2 0;0;0 0.508 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D1 False 2 0;0;0 0.508 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group J False 2 0;0;0 0.508 False ENSG00000136492 ENSG00000136492 HGNC:20473 BSND gene BSND Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4a False 2 0;0;0 0.508 False ENSG00000162399 ENSG00000162399 HGNC:16512 C1QA gene C1QA Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal C1QA associated C1q deficiency False 2 0;0;0 0.508 False ENSG00000173372 ENSG00000173372 HGNC:1241 C1QB gene C1QB Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal C1QB associated C1q deficiency False 2 0;0;0 0.508 False ENSG00000173369 ENSG00000173369 HGNC:1242 C1QC gene C1QC Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal C1QC associated C1q deficiency False 2 0;0;0 0.508 False ENSG00000159189 ENSG00000159189 HGNC:1245 CA12 gene CA12 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Isolated hyperchlorhidrosis False 2 0;0;0 0.508 False ENSG00000074410 ENSG00000074410 HGNC:1371 CACNA1A gene CACNA1A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 2 False 2 0;0;0 0.508 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1C gene CACNA1C Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT Syndrome 8 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1D gene CACNA1D Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Primary aldosteronism, seizures, and neurologic abnormalities False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157388 ENSG00000157388 HGNC:1391 CACNA1H gene CACNA1H Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperaldosteronism, familial, type IV False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000196557 ENSG00000196557 HGNC:1395 CACNA1S gene CACNA1S Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypokalemic periodic paralysis type 1 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000081248 ENSG00000081248 HGNC:1397 CALM1 gene CALM1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT Syndrome 14 and Catecholaminergic polymorphic ventricular tachycardia False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000198668 ENSG00000198668 HGNC:1442 CALM2 gene CALM2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT Syndrome 15 and Catecholaminergic polymorphic ventricular tachycardia False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000143933 ENSG00000143933 HGNC:1445 CALM3 gene CALM3 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT Syndrome 16 and Catecholaminergic polymorphic ventricular tachycardia False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000160014 ENSG00000160014 HGNC:1449 CARD11 gene CARD11 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 11A False 2 0;0;0 0.508 False ENSG00000198286 ENSG00000198286 HGNC:16393 CARD14 gene CARD14 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pityriasis rubra pilaris False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000141527 ENSG00000141527 HGNC:16446 CASQ2 gene CASQ2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 2 False 2 0;0;0 0.508 False ENSG00000118729 ENSG00000118729 HGNC:1513 CD19 gene CD19 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Common variable immune deficiency 3 False 2 0;0;0 0.508 False ENSG00000177455 ENSG00000177455 HGNC:1633 CD27 gene CD27 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immune dysregulation 2 False 2 0;0;0 0.508 False ENSG00000139193 ENSG00000139193 HGNC:11922 CD320 gene CD320 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, transient, due to transcobalamin receptor defect False 2 0;0;0 0.508 False ENSG00000167775 ENSG00000167775 HGNC:16692 CD46 gene CD46 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, 2, autosomal recessive False 2 0;0;0 0.508 False ENSG00000117335 ENSG00000117335 HGNC:6953 CD55 gene CD55 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy False 2 0;0;0 0.508 False ENSG00000196352 ENSG00000196352 HGNC:2665 CD81 gene CD81 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Common variable immune deficiency 6 False 2 0;0;0 0.508 False ENSG00000110651 ENSG00000110651 HGNC:1701 CEL gene CEL Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity-onset diabetes of the young, type VIII False 2 0;0;0 0.508 False 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 CFB gene CFB Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Complement factor B deficiency False 2 0;0;0 0.508 False ENSG00000243649 ENSG00000243649 HGNC:1037 CFHR1 gene CFHR1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CFHR1 associated susceptibility to atypical hemolytic uremic syndrome False 2 0;0;0 0.508 False ENSG00000244414 ENSG00000244414 HGNC:4888 CLCN1 gene CLCN1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Myotonia congenita, recessive False 2 0;0;0 0.508 False ENSG00000188037 ENSG00000188037 HGNC:2019 CLCN2 gene CLCN2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperaldosteronism, familial, type II False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000114859 ENSG00000114859 HGNC:2020 CLCNKB gene CLCNKB Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 3 False 2 0;0;0 0.508 False ENSG00000184908 ENSG00000184908 HGNC:2027 COPA gene COPA Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoimmune interstitial lung, joint, and kidney disease False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000122218 ENSG00000122218 HGNC:2230 CP gene CP Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hemosiderosis, systemic, due to aceruloplasminemia False 2 0;0;0 0.508 False ENSG00000047457 ENSG00000047457 HGNC:2295 CPOX gene CPOX Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coproporphyria False 2 0;0;0 0.508 False ENSG00000080819 ENSG00000080819 HGNC:2321 CR2 gene CR2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Common variable immune deficiency 7 False 2 0;0;0 0.508 False ENSG00000117322 ENSG00000117322 HGNC:2336 CTLA4 gene CTLA4 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation False 2 0;0;0 0.508 False ENSG00000163599 ENSG00000163599 HGNC:2505 CYB561 gene CYB561 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Orthostatic hypotension 2 False 2 0;0;0 0.508 False ENSG00000008283 ENSG00000008283 HGNC:2571 CYP21A2 gene CYP21A2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital adrenal hyperplasia due to 21-hydroxylase deficiency False 2 0;0;0 0.508 False ENSG00000231852 ENSG00000231852 HGNC:2600 DBH gene DBH Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Orthostatic hypotension 1, due to DBH deficiency False 2 0;0;0 0.508 False ENSG00000123454 ENSG00000123454 HGNC:2689 DGKE gene DGKE Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, 7 False 2 0;0;0 0.508 False ENSG00000153933 ENSG00000153933 HGNC:2852 DICER1 gene DICER1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pleuropulmonary blastoma predisposition syndrome False 2 0;0;0 0.508 False ENSG00000100697 ENSG00000100697 HGNC:17098 DIS3L2 gene DIS3L2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Perlman syndrome False 2 0;0;0 0.508 False ENSG00000144535 ENSG00000144535 HGNC:28648 DMD gene DMD Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Duchenne Muscular Dystrophy False 2 0;0;0 0.508 False ENSG00000198947 ENSG00000198947 HGNC:2928 DNASE2 gene DNASE2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal DNASE2 deficiency False 2 0;0;0 0.508 False ENSG00000105612 ENSG00000105612 HGNC:2960 ECHS1 gene ECHS1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency False 2 0;0;0 0.508 False ENSG00000127884 ENSG00000127884 HGNC:3151 EIF2S3 gene EIF2S3 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females MEHMO syndrome False 2 0;0;0 0.508 False ENSG00000130741 ENSG00000130741 HGNC:3267 ELF4 gene ELF4 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 False 2 0;0;0 0.508 False ENSG00000102034 ENSG00000102034 HGNC:3319 EPCAM gene EPCAM Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Diarrhoea 5, with tufting enteropathy, congenital False 2 0;0;0 0.508 False ENSG00000119888 ENSG00000119888 HGNC:11529 ERCC4 gene ERCC4 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group Q False 2 0;0;0 0.508 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC6L2 gene ERCC6L2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 2 False 2 0;0;0 0.508 False ENSG00000182150 ENSG00000182150 HGNC:26922 F11 gene F11 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Factor XI deficiency, autosomal recessive False 2 0;0;0 0.508 False ENSG00000088926 ENSG00000088926 HGNC:3529 FANCA gene FANCA Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group A False 2 0;0;0 0.508 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Fanconi anemia, complementation group B False 2 0;0;0 0.508 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group C False 2 0;0;0 0.508 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D2 False 2 0;0;0 0.508 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group E False 2 0;0;0 0.508 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group F False 2 0;0;0 0.508 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group G False 2 0;0;0 0.508 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group I False 2 0;0;0 0.508 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group L False 2 0;0;0 0.508 False ENSG00000115392 ENSG00000115392 HGNC:20748 FARS2 gene FARS2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 77, autosomal recessive False 2 0;0;0 0.508 False ENSG00000145982 ENSG00000145982 HGNC:21062 FGFR3 gene FGFR3 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Achondroplasia False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000068078 ENSG00000068078 HGNC:3690 FOXA2 gene FOXA2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FOXA2 associated hyperinsulinism and hypopituitarism. No OMIM phenotype. Clingen moderate gene disease association with combined pituitary hormone deficiencies, genetic form False 2 0;0;0 0.508 False ENSG00000125798 ENSG00000125798 HGNC:5022 FOXI1 gene FOXI1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal FOXI1 associated distal renal tubular acidosis False 2 0;0;0 0.508 False ENSG00000168269 ENSG00000168269 HGNC:3815 FUCA1 gene FUCA1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fucosidosis False 2 0;0;0 0.508 False ENSG00000179163 ENSG00000179163 HGNC:4006 FXN gene FXN Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia False 2 0;0;0 0.508 False ENSG00000165060 ENSG00000165060 HGNC:3951 FXYD2 gene FXYD2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypomagnesemia 2, renal False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000137731 ENSG00000137731 HGNC:4026 G6PD gene G6PD Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) G6PD deficient hemolytic anemia False 2 0;100;0 0.508 False ENSG00000160211 ENSG00000160211 HGNC:4057 GALC gene GALC Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Krabbe disease False 2 0;0;0 0.508 False ENSG00000054983 ENSG00000054983 HGNC:4115 GALM gene GALM Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Galactosemia IV False 2 0;0;0 0.508 False ENSG00000143891 ENSG00000143891 HGNC:24063 GATA1 gene GATA1 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females GATA1 associated X-Linked Cytopenia False 2 0;0;0 0.508 False ENSG00000102145 ENSG00000102145 HGNC:4170 GATA2 gene GATA2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency 21 False 2 0;0;0 0.508 False ENSG00000179348 ENSG00000179348 HGNC:4171 GATA4 gene GATA4 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pancreatic agenesis and congenital heart defects (no matching phenotype on OMIM) False 2 0;0;0 0.508 False ENSG00000136574 ENSG00000136574 HGNC:4173 GATA6 gene GATA6 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pancreatic agenesis and congenital heart defects False 2 0;0;0 0.508 False ENSG00000141448 ENSG00000141448 HGNC:4174 GBA gene GBA Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Gaucher disease False 2 0;0;0 0.508 False ENSG00000177628 ENSG00000177628 HGNC:4177 GCH1 gene GCH1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Dopa-responsive dystonia due to GTP cyclohydrolase 1 deficiency, autosomal recessive False 2 0;0;0 0.508 False ENSG00000131979 ENSG00000131979 HGNC:4193 GGCX gene GGCX Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Vitamin K-dependent clotting factors, combined deficiency of, 1 False 2 0;0;0 0.508 False ENSG00000115486 ENSG00000115486 HGNC:4247 GLA gene GLA Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Fabry Disease False 2 0;0;0 0.508 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLRA1 gene GLRA1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 1 autosomal recessive False 2 0;0;0 0.508 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLRB gene GLRB Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2 False 2 0;0;0 0.508 False ENSG00000109738 ENSG00000109738 HGNC:4329 GLRX5 gene GLRX5 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, 3, pyridoxine-refractory False 2 0;0;0 0.508 False ENSG00000182512 ENSG00000182512 HGNC:20134 GNAS gene GNAS Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudohypoparathyroidism Ia False 2 0;0;0 0.508 False ENSG00000087460 ENSG00000087460 HGNC:4392 GNE gene GNE Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy False 2 0;0;0 0.508 False ENSG00000159921 ENSG00000159921 HGNC:23657 GOT2 gene GOT2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 82 False 2 0;0;0 0.508 False ENSG00000125166 ENSG00000125166 HGNC:4433 GRIN2A gene GRIN2A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Focal epilepsy and speech disorder False 2 0;0;0 0.508 False ENSG00000183454 ENSG00000183454 HGNC:4585 GYS2 gene GYS2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal glycogen storage disease type 0 False 2 0;0;0 0.508 False ENSG00000111713 ENSG00000111713 HGNC:4707 HAMP gene HAMP Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2B False 2 0;0;0 0.508 False ENSG00000105697 ENSG00000105697 HGNC:15598 HAVCR2 gene HAVCR2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Subcutaneous panniculitis-like T cell lymphoma False 2 0;0;0 0.508 False ENSG00000135077 ENSG00000135077 HGNC:18437 HBA1 gene HBA1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Alpha Thalassaemia False 2 0;0;0 0.508 False ENSG00000206172 ENSG00000206172 HGNC:4823 HBA2 gene HBA2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Alpha Thalassaemia False 2 0;0;0 0.508 False ENSG00000188536 ENSG00000188536 HGNC:4824 HCFC1 gene HCFC1 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Methylmalonic aciduria and homocysteinemia, cblX type False 2 0;0;0 0.508 False ENSG00000172534 ENSG00000172534 HGNC:4839 HFE2 gene HFE2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2A False 2 0;0;0 0.508 False ENSG00000168509 ENSG00000168509 HGNC:4887 HGD gene HGD Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Alkaptonuria False 2 0;0;0 0.508 False ENSG00000113924 ENSG00000113924 HGNC:4892 HIBCH gene HIBCH Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutryl-CoA hydrolase deficiency False 2 0;0;0 0.508 False ENSG00000198130 ENSG00000198130 HGNC:4908 HMBS gene HMBS Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Porphyria, acute intermittent False 2 0;0;0 0.508 False ENSG00000256269 ENSG00000256269 HGNC:4982 HNF1A gene HNF1A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HNF1A associated hyperinsulinism False 2 0;0;0 0.508 False ENSG00000135100 ENSG00000135100 HGNC:11621 HNF1B gene HNF1B Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal Cysts and Diabetes Syndrome False 2 0;0;0 0.508 False ENSG00000108753 ENSG00000275410 HGNC:11630 HOXA11 gene HOXA11 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000005073 ENSG00000005073 HGNC:5101 HSCB gene HSCB Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, 5 False 2 0;0;0 0.508 False ENSG00000100209 ENSG00000100209 HGNC:28913 HSPA9 gene HSPA9 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Anemia, sideroblastic, 4 False 2 0;0;0 0.508 False ENSG00000113013 ENSG00000113013 HGNC:5244 IARS gene IARS Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Growth retardation, impaired intellectual development, hypotonia, and hepatopathy False 2 0;0;0 0.508 False ENSG00000196305 ENSG00000196305 HGNC:5330 ICOS gene ICOS Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Common variable immune deficiency 1 False 2 0;0;0 0.508 False ENSG00000163600 ENSG00000163600 HGNC:5351 IER3IP1 gene IER3IP1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome False 2 0;0;0 0.508 False ENSG00000134049 ENSG00000134049 HGNC:18550 IFIH1 gene IFIH1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aicardi-Goutieres syndrome 7 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000115267 ENSG00000115267 HGNC:18873 IGFALS gene IGFALS Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Acid-labile subunit deficiency False 2 0;0;0 0.508 False ENSG00000099769 ENSG00000099769 HGNC:5468 IKBKG gene IKBKG Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 33 False 2 0;0;0 0.508 False ENSG00000073009 ENSG00000269335 HGNC:5961 IKZF1 gene IKZF1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Common variable immune deficiency 13 False 2 0;0;0 0.508 False ENSG00000185811 ENSG00000185811 HGNC:13176 IL1RN gene IL1RN Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Interleukin 1 receptor antagonist deficiency False 2 0;0;0 0.508 False ENSG00000136689 ENSG00000136689 HGNC:6000 IL21 gene IL21 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Common variable immune deficiency 11 False 2 0;0;0 0.508 False ENSG00000138684 ENSG00000138684 HGNC:6005 IL21R gene IL21R Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 56 False 2 0;0;0 0.508 False ENSG00000103522 ENSG00000103522 HGNC:6006 IL36RN gene IL36RN Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal pustular psoriasis-14 False 2 0;0;0 0.508 False ENSG00000136695 ENSG00000136695 HGNC:15561 INSR gene INSR Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperinsulinemic hypoglycemia, familial, 5 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171105 ENSG00000171105 HGNC:6091 IRF2BP2 gene IRF2BP2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Common variable immune deficiency 14 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000168264 ENSG00000168264 HGNC:21729 JAK1 gene JAK1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoinflammation, immune dysregulation, and eosinophilia False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000162434 ENSG00000162434 HGNC:6190 KCNA1 gene KCNA1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia/myokymia syndrome False 2 0;0;0 0.508 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNE1 gene KCNE1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome 2 False 2 0;0;0 0.508 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNH2 gene KCNH2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT Syndrome 2 False 2 0;0;0 0.508 False ENSG00000055118 ENSG00000055118 HGNC:6251 KCNJ2 gene KCNJ2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Andersen-Tawil syndrome and Catecholaminergic polymorphic ventricular tachycardia False 2 0;0;0 0.508 False ENSG00000123700 ENSG00000123700 HGNC:6263 KCNJ5 gene KCNJ5 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperaldosteronism, familial, type III False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000120457 ENSG00000120457 HGNC:6266 KCNJ8 gene KCNJ8 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KCNJ8 associated hypertrichotic osteochondrodysplasia False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000121361 ENSG00000121361 HGNC:6269 KCNQ1 gene KCNQ1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome False 2 0;0;0 0.508 False ENSG00000053918 ENSG00000053918 HGNC:6294 KCNQ2 gene KCNQ2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early infantile epileptic encephalopathy-7 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000075043 ENSG00000075043 HGNC:6296 KCNT1 gene KCNT1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early infantile epileptic encephalopathy-14 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000107147 ENSG00000107147 HGNC:18865 KDM1A gene KDM1A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KDM1A associated ACTH-independent macronodular adrenal hyperplasia False 2 0;0;0 0.508 False ENSG00000004487 ENSG00000004487 HGNC:29079 KDSR gene KDSR Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Erythrokeratodermia variabilis et progressiva 4 False 2 0;0;0 0.508 False ENSG00000119537 ENSG00000119537 HGNC:4021 LAMTOR2 gene LAMTOR2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal MAPBP-interacting protein associated immunodeficiency False 2 0;0;0 0.508 False ENSG00000116586 ENSG00000116586 HGNC:29796 LARS gene LARS Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 1 False 2 0;0;0 0.508 False ENSG00000133706 ENSG00000133706 HGNC:6512 LHX4 gene LHX4 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary hormone deficiency, combined, 4 False 2 0;0;0 0.508 False ENSG00000121454 ENSG00000121454 HGNC:21734 LMAN1 gene LMAN1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Combined factor V and VIII deficiency False 2 0;0;0 0.508 False ENSG00000074695 ENSG00000074695 HGNC:6631 LMNA gene LMNA Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hutchinson-Gilford progeria syndrome False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000160789 ENSG00000160789 HGNC:6636 LPIN2 gene LPIN2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Majeed syndrome False 2 0;0;0 0.508 False ENSG00000101577 ENSG00000101577 HGNC:14450 LRBA gene LRBA Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity False 2 0;0;0 0.508 False ENSG00000198589 ENSG00000198589 HGNC:1742 LRP4 gene LRP4 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-17 False 2 0;0;0 0.508 False ENSG00000134569 ENSG00000134569 HGNC:6696 LSM11 gene LSM11 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 8 False 2 0;0;0 0.508 False ENSG00000155858 ENSG00000155858 HGNC:30860 MAD2L2 gene MAD2L2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group V False 2 0;0;0 0.508 False ENSG00000116670 ENSG00000116670 HGNC:6764 MAGED2 gene MAGED2 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Bartter syndrome, type 5, antenatal, transient False 2 0;0;0 0.508 False ENSG00000102316 ENSG00000102316 HGNC:16353 MALT1 gene MALT1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 12 False 2 0;0;0 0.508 False ENSG00000172175 ENSG00000172175 HGNC:6819 MAP3K14 gene MAP3K14 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal MAP3K14 associated immunodeficiency False 2 0;0;0 0.508 False ENSG00000006062 ENSG00000006062 HGNC:6853 MARS gene MARS Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Interstitial lung and liver disease False 2 0;0;0 0.508 False ENSG00000166986 ENSG00000166986 HGNC:6898 MCCC1 gene MCCC1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 1 deficiency False 2 0;0;0 0.508 False ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 2 deficiency False 2 0;0;0 0.508 False ENSG00000131844 ENSG00000131844 HGNC:6937 MCFD2 gene MCFD2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Factor V and factor VIII, combined deficiency of False 2 0;0;0 0.508 False ENSG00000180398 ENSG00000180398 HGNC:18451 MECOM gene MECOM Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 False 2 0;0;0 0.508 False ENSG00000085276 ENSG00000085276 HGNC:3498 MEFV gene MEFV Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Familial Mediterranean fever, Autosomal recessive False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000103313 ENSG00000103313 HGNC:6998 MLH1 gene MLH1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 1 False 2 0;0;0 0.508 False ENSG00000076242 ENSG00000076242 HGNC:7127 MLYCD gene MLYCD Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Malonyl-CoA decarboxylase deficiency False 2 0;0;0 0.508 False ENSG00000103150 ENSG00000103150 HGNC:7150 MNX1 gene MNX1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Currarino syndrome A syndrome of neonatal diabetes mellitus, developmental delays, sacral agenesis and imperforated anus False 2 0;0;0 0.508 False ENSG00000130675 ENSG00000130675 HGNC:4979 MOCS1 gene MOCS1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency A False 2 0;0;0 0.508 False ENSG00000124615 ENSG00000124615 HGNC:7190 MS4A1 gene MS4A1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Common variable immune deficiency 5 False 2 0;0;0 0.508 False ENSG00000156738 ENSG00000156738 HGNC:7315 MSH2 gene MSH2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 2 False 2 0;0;0 0.508 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 3 False 2 0;0;0 0.508 False ENSG00000116062 ENSG00000116062 HGNC:7329 MTHFS gene MTHFS Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination False 2 0;0;0 0.508 False ENSG00000136371 ENSG00000136371 HGNC:7437 MVK gene MVK Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyper-IgD syndrome / mevalonate kinase deficiciency False 2 0;0;0 0.508 False ENSG00000110921 ENSG00000110921 HGNC:7530 MYO9A gene MYO9A Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-24 False 2 0;0;0 0.508 False ENSG00000066933 ENSG00000066933 HGNC:7608 NAGLU gene NAGLU Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B) False 2 0;0;0 0.508 False ENSG00000108784 ENSG00000108784 HGNC:7632 NAXD gene NAXD Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 2 False 2 0;0;0 0.508 False ENSG00000213995 ENSG00000213995 HGNC:25576 NAXE gene NAXE Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 1 False 2 0;0;0 0.508 False ENSG00000163382 ENSG00000163382 HGNC:18453 NCF1 gene NCF1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 1 False 2 0;0;0 0.508 False ENSG00000158517 ENSG00000158517 HGNC:7660 NFKB1 gene NFKB1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Common variable immune deficiency 12 False 2 0;0;0 0.508 False ENSG00000109320 ENSG00000109320 HGNC:7794 NFKB2 gene NFKB2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Common variable immune deficiency 10 False 2 0;0;0 0.508 False ENSG00000077150 ENSG00000077150 HGNC:7795 NIPAL4 gene NIPAL4 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 6 False 2 0;0;0 0.508 False ENSG00000172548 ENSG00000172548 HGNC:28018 NKX2-1 gene NKX2-1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Choreoathetosis, hypothyroidism, and neonatal respiratory distress False 2 0;0;0 0.508 False ENSG00000136352 ENSG00000136352 HGNC:11825 NKX2-2 gene NKX2-2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Neonatal diabetes syndromic - No phenotype in OMIM False 2 0;0;0 0.508 False ENSG00000125820 ENSG00000125820 HGNC:7835 NLRC4 gene NLRC4 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NLRC4 associated familial cold inflammatory syndrome False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000091106 ENSG00000091106 HGNC:16412 NLRP12 gene NLRP12 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial cold autoinflammatory syndrome 2 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000142405 ENSG00000142405 HGNC:22938 NOD2 gene NOD2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Blau syndrome False 2 0;0;0 0.508 False ENSG00000167207 ENSG00000167207 HGNC:5331 NPC1 gene NPC1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C, NPC1 False 2 0;0;0 0.508 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C, NPC2 False 2 0;0;0 0.508 False ENSG00000119655 ENSG00000119655 HGNC:14537 ORAI1 gene ORAI1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 9 False 2 0;0;0 0.508 False ENSG00000182500 ENSG00000276045 HGNC:25896 OTULIN gene OTULIN Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Autoinflammation, panniculitis, and dermatosis syndrome False 2 0;0;0 0.508 False ENSG00000154124 ENSG00000154124 HGNC:25118 PALB2 gene PALB2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group N False 2 0;0;0 0.508 False ENSG00000083093 ENSG00000083093 HGNC:26144 PAPPA2 gene PAPPA2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal PAPPA2 associated short stature False 2 0;0;0 0.508 False ENSG00000116183 ENSG00000116183 HGNC:14615 PCSK9 gene PCSK9 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial hypercholesterolaemia-3 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000169174 ENSG00000169174 HGNC:20001 PDGFRB gene PDGFRB Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PDGFRB activating spectrum disorder False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000113721 ENSG00000113721 HGNC:8804 PDX1 gene PDX1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Pancreatic agenesis 1 False 2 0;0;0 0.508 False ENSG00000139515 ENSG00000139515 HGNC:6107 PGM3 gene PGM3 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23 False 2 0;0;0 0.508 False ENSG00000013375 ENSG00000013375 HGNC:8907 PHGDH gene PHGDH Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Phosphoglycerate dehydrogenase deficiency False 2 0;0;0 0.508 False ENSG00000092621 ENSG00000092621 HGNC:8923 PHKA1 gene PHKA1 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Muscle glycogenosis False 2 0;0;0 0.508 False ENSG00000067177 ENSG00000067177 HGNC:8925 PHKB gene PHKB Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Phosphorylase kinase deficiency of liver and muscle, autosomal recessive False 2 0;0;0 0.508 False ENSG00000102893 ENSG00000102893 HGNC:8927 PHOX2B gene PHOX2B Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PHOX2B-related susceptibility to Neuroblastoma and central hypoventilation syndrome False 2 0;0;0 0.508 False ENSG00000109132 ENSG00000109132 HGNC:9143 PIK3CA gene PIK3CA Expert Review Amber Newborns main panel Other PIK3CA related overgrowth spectrum False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3CD gene PIK3CD Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 14B False 2 0;0;0 0.508 False ENSG00000171608 ENSG00000171608 HGNC:8977 PLCG2 gene PLCG2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoinflammation and PLCG2 associated antibody deficiency and immune dysregulation (APLAID) False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000197943 ENSG00000197943 HGNC:9066 PLG gene PLG Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Plasminogen deficiency, type I False 2 0;0;0 0.508 False ENSG00000122194 ENSG00000122194 HGNC:9071 PMM2 gene PMM2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia False 2 0;0;0 0.508 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMS2 gene PMS2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 4 False 2 0;0;0 0.508 False ENSG00000122512 ENSG00000122512 HGNC:9122 POMP gene POMP Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Proteasome-associated autoinflammatory syndrome 2 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000132963 ENSG00000132963 HGNC:20330 PRDX1 gene PRDX1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, digenic False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000117450 ENSG00000117450 HGNC:9352 PRKCD gene PRKCD Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type III False 2 0;0;0 0.508 False ENSG00000163932 ENSG00000163932 HGNC:9399 PROKR2 gene PROKR2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 3 with or without anosmia, autosomal dominant False 2 0;0;0 0.508 False ENSG00000101292 ENSG00000101292 HGNC:15836 PRPS1 gene PRPS1 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Arts syndrome False 2 0;0;0 0.508 False ENSG00000147224 ENSG00000147224 HGNC:9462 PRRT2 gene PRRT2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic kinesigenic dyskinesia 1 False 2 0;0;0 0.508 False ENSG00000167371 ENSG00000167371 HGNC:30500 PSAP gene PSAP Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy due to SAP-b deficiency False 2 0;0;0 0.508 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSAT1 gene PSAT1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Phosphoserine aminotransferase deficiency False 2 0;0;0 0.508 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSMB10 gene PSMB10 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 5 False 2 0;0;0 0.508 False ENSG00000205220 ENSG00000205220 HGNC:9538 PSMB4 gene PSMB4 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 3 False 2 0;0;0 0.508 False ENSG00000159377 ENSG00000159377 HGNC:9541 PSMB8 gene PSMB8 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1 False 2 0;0;0 0.508 False ENSG00000204264 ENSG00000204264 HGNC:9545 PSMB9 gene PSMB9 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PSMB9 associated proteasome-associated autoinflammatory syndrome False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000240065 ENSG00000240065 HGNC:9546 PSMG2 gene PSMG2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 4 False 2 0;0;0 0.508 False ENSG00000128789 ENSG00000128789 HGNC:24929 PSPH gene PSPH Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency False 2 0;0;0 0.508 False ENSG00000146733 ENSG00000146733 HGNC:9577 RAC2 gene RAC2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 73C False 2 0;0;0 0.508 False ENSG00000128340 ENSG00000128340 HGNC:9802 RAD51 gene RAD51 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fanconi anemia, complementation group R False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000051180 ENSG00000051180 HGNC:9817 RAD51C gene RAD51C Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group O False 2 0;0;0 0.508 False ENSG00000108384 ENSG00000108384 HGNC:9820 REL gene REL Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 92 False 2 0;0;0 0.508 False ENSG00000162924 ENSG00000162924 HGNC:9954 RELA gene RELA Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RELA associated chronic mucocutaneous ulceration False 2 0;0;0 0.508 False ENSG00000173039 ENSG00000173039 HGNC:9955 RELB gene RELB Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 53 False 2 0;0;0 0.508 False ENSG00000104856 ENSG00000104856 HGNC:9956 RFWD3 gene RFWD3 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group W False 2 0;0;0 0.508 False ENSG00000168411 ENSG00000168411 HGNC:25539 RFX6 gene RFX6 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mitchell-Riley Syndrome/neonatal diabetes with pancreatic hypoplasia, intestinal atresia and gallbladder hypoplasia or aplasia False 2 0;0;0 0.508 False ENSG00000185002 ENSG00000185002 HGNC:21478 RMRP gene RMRP Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Cartilege Hair Hypoplasia False 2 0;0;0 0.508 False ENSG00000269900 ENSG00000269900 HGNC:10031 RNASEH2A gene RNASEH2A Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4 False 2 0;0;0 0.508 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2 False 2 0;0;0 0.508 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3 False 2 0;0;0 0.508 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNU7-1 gene RNU7-1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 9 False 2 0;0;0 0.508 False ENSG00000238923 ENSG00000238923 HGNC:34033 RPL18 gene RPL18 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 18 False 2 0;0;0 0.508 False ENSG00000063177 ENSG00000063177 HGNC:10310 RPL27 gene RPL27 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 16 False 2 0;0;0 0.508 False ENSG00000131469 ENSG00000131469 HGNC:10328 RPL31 gene RPL31 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RPL31 associated Diamond-Blackfan anaemia False 2 0;0;0 0.508 False ENSG00000071082 ENSG00000071082 HGNC:10334 RPL35 gene RPL35 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 19 False 2 0;0;0 0.508 False ENSG00000136942 ENSG00000136942 HGNC:10344 RPS15A gene RPS15A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 20 False 2 0;0;0 0.508 False ENSG00000134419 ENSG00000134419 HGNC:10389 RPS27 gene RPS27 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 17 False 2 0;0;0 0.508 False ENSG00000177954 ENSG00000177954 HGNC:10416 RPS28 gene RPS28 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anaemia 15 with mandibulofacial dysostosis False 2 0;0;0 0.508 False ENSG00000233927 ENSG00000233927 HGNC:10418 RPS9 gene RPS9 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RPS9 associated Diamond-Blackfan anaemia False 2 0;0;0 0.508 False ENSG00000170889 ENSG00000170889 HGNC:10442 RYR2 gene RYR2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown catecholaminergic polymorphic ventricular tachycardia 1 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000198626 ENSG00000198626 HGNC:10484 SAMD9L gene SAMD9L Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ataxia pancytopaenia syndrome False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000177409 ENSG00000177409 HGNC:1349 SAMHD1 gene SAMHD1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5 False 2 0;0;0 0.508 False ENSG00000101347 ENSG00000101347 HGNC:15925 SARS gene SARS Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, ataxia, and seizures False 2 0;0;0 0.508 False ENSG00000031698 ENSG00000031698 HGNC:10537 SCN1A gene SCN1A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early infantile epileptic encephalopathy-6 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000144285 ENSG00000144285 HGNC:10585 SCN2A gene SCN2A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early infantile epileptic encephalopathy-11 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000136531 ENSG00000136531 HGNC:10588 SCN3A gene SCN3A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial focal, with variable foci 4 False 2 0;0;0 0.508 False ENSG00000153253 ENSG00000153253 HGNC:10590 SCN5A gene SCN5A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT Syndrome 3 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000183873 ENSG00000183873 HGNC:10593 SCN8A gene SCN8A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early infantile epileptic encephalopathy-13 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000196876 ENSG00000196876 HGNC:10596 SERPINA1 gene SERPINA1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Alpha-1-antitrypsin deficiency False 2 0;0;0 0.508 False ENSG00000197249 ENSG00000197249 HGNC:8941 SERPING1 gene SERPING1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hereditary angioedema, autosomal recessive False 2 0;0;0 0.508 False ENSG00000149131 ENSG00000149131 HGNC:1228 SFTPC gene SFTPC Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Surfactant metabolism dysfunction, pulmonary, 2 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000168484 ENSG00000168484 HGNC:10802 SLC13A5 gene SLC13A5 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Early infantile epileptic encephalopathy-25 False 2 0;0;0 0.508 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC16A1 gene SLC16A1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial hyperinsulinemic hypoglycemia-7 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000155380 ENSG00000155380 HGNC:10922 SLC16A2 gene SLC16A2 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome False 2 0;0;0 0.508 False ENSG00000147100 ENSG00000147100 HGNC:10923 SLC18A2 gene SLC18A2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Infantile parkinsonism-dystonia-2 False 2 0;0;0 0.508 False ENSG00000165646 ENSG00000165646 HGNC:10935 SLC1A3 gene SLC1A3 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 6 False 2 0;0;0 0.508 False ENSG00000079215 ENSG00000079215 HGNC:10941 SLC25A38 gene SLC25A38 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, 2, pyridoxine-refractory False 2 0;0;0 0.508 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC26A3 gene SLC26A3 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Diarrhoea 1, secretory chloride, congenital False 2 0;0;0 0.508 False ENSG00000091138 ENSG00000091138 HGNC:3018 SLC26A4 gene SLC26A4 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Pendred Syndrome False 2 0;0;0 0.508 False ENSG00000091137 ENSG00000091137 HGNC:8818 SLC2A2 gene SLC2A2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi-Bickel syndrome False 2 0;0;0 0.508 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLC35A2 gene SLC35A2 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Congenital disorder of glycosylation, type IIm False 2 0;0;0 0.508 False ENSG00000102100 ENSG00000102100 HGNC:11022 SLC35C1 gene SLC35C1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIc False 2 0;0;0 0.508 False ENSG00000181830 ENSG00000181830 HGNC:20197 SLC39A14 gene SLC39A14 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 2 False 2 0;0;0 0.508 False ENSG00000104635 ENSG00000104635 HGNC:20858 SLC39A8 gene SLC39A8 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn False 2 0;0;0 0.508 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC40A1 gene SLC40A1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hemochromatosis, type 4 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000138449 ENSG00000138449 HGNC:10909 SLC4A4 gene SLC4A4 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis, proximal, with ocular abnormalities False 2 0;0;0 0.508 False ENSG00000080493 ENSG00000080493 HGNC:11030 SLC5A6 gene SLC5A6 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Sodium-dependent multivitamin transporter deficiency False 2 0;0;0 0.508 False ENSG00000138074 ENSG00000138074 HGNC:11041 SLC6A5 gene SLC6A5 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 3 autosomal recessive False 2 0;0;0 0.508 False ENSG00000165970 ENSG00000165970 HGNC:11051 SLC6A6 gene SLC6A6 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypotaurinemic retinal degeneration and cardiomyopathy False 2 0;0;0 0.508 False ENSG00000131389 ENSG00000131389 HGNC:11052 SLC6A8 gene SLC6A8 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Cerebral creatine deficiency syndrome 1 False 2 0;0;0 0.508 False ENSG00000130821 ENSG00000130821 HGNC:11055 SLC9A3 gene SLC9A3 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Diarrhoea 8, secretory sodium, congenital False 2 0;0;0 0.508 False ENSG00000066230 ENSG00000066230 HGNC:11073 SLX4 gene SLX4 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group P False 2 0;0;0 0.508 False ENSG00000188827 ENSG00000188827 HGNC:23845 SMARCA4 gene SMARCA4 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rhabdoid tumour predisposition syndrome False 2 0;0;0 0.508 False ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCB1 gene SMARCB1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rhabdoid tumour predisposition syndrome False 2 0;0;0 0.508 False ENSG00000099956 ENSG00000099956 HGNC:11103 SMPD1 gene SMPD1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A and type B False 2 0;0;0 0.508 False ENSG00000166311 ENSG00000166311 HGNC:11120 SNAP25 gene SNAP25 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital myasthenic syndrome-18 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000132639 ENSG00000132639 HGNC:11132 SORD gene SORD Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Sorbitol dehydrogenase deficiency with peripheral neuropathy False 2 0;0;0 0.508 False ENSG00000140263 ENSG00000140263 HGNC:11184 SOX3 gene SOX3 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Panhypopituitarism, X-linked False 2 0;0;0 0.508 False ENSG00000134595 ENSG00000134595 HGNC:11199 SPINT2 gene SPINT2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Diarrhoea 3, secretory sodium, congenital, syndromic False 2 0;0;0 0.508 False ENSG00000167642 ENSG00000167642 HGNC:11247 SPR gene SPR Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Dopa-responsive dystonia due to sepiapterin reductase deficiency False 2 0;0;0 0.508 False ENSG00000116096 ENSG00000116096 HGNC:11257 SPTLC1 gene SPTLC1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory and autonomic, type IA False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory and autonomic, type IC False 2 0;0;0 0.508 False ENSG00000100596 ENSG00000100596 HGNC:11278 STIM1 gene STIM1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 10 False 2 0;0;0 0.508 False ENSG00000167323 ENSG00000167323 HGNC:11386 STX16 gene STX16 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudohypoparathyroidism, type IB False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000124222 ENSG00000124222 HGNC:11431 TECRL gene TECRL Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 3 False 2 0;0;0 0.508 False ENSG00000205678 ENSG00000205678 HGNC:27365 TFR2 gene TFR2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 3 False 2 0;0;0 0.508 False ENSG00000106327 ENSG00000106327 HGNC:11762 THAP11 gene THAP11 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype False 2 0;0;0 0.508 False ENSG00000168286 ENSG00000168286 HGNC:23194 THBD gene THBD Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hemolytic uremic syndrome, atypical, susceptibility to, 6 False 2 0;0;0 0.508 False ENSG00000178726 ENSG00000178726 HGNC:11784 TK2 gene TK2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Thymidine kinase deficiency False 2 0;0;0 0.508 False ENSG00000166548 ENSG00000166548 HGNC:11831 TMEM165 gene TMEM165 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk False 2 0;0;0 0.508 False ENSG00000134851 ENSG00000134851 HGNC:30760 TNFAIP3 gene TNFAIP3 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Behcet-like autoinflammatory syndrome-1 False 2 0;0;0 0.508 False ENSG00000118503 ENSG00000118503 HGNC:11896 TNFRSF13C gene TNFRSF13C Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Common variable immune deficiency 4 False 2 0;0;0 0.508 False ENSG00000159958 ENSG00000159958 HGNC:17755 TNFRSF1A gene TNFRSF1A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tumor necrosis factor receptor associated periodic fever syndrome False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000067182 ENSG00000067182 HGNC:11916 TOP2B gene TOP2B Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown B-cell immunodeficiency, distal limb anomalies, and urogenital malformations False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000077097 ENSG00000077097 HGNC:11990 TP53 gene TP53 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Li Fraumeni False 2 0;0;0 0.508 False ENSG00000141510 ENSG00000141510 HGNC:11998 TPP1 gene TPP1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2 False 2 0;0;0 0.508 False ENSG00000166340 ENSG00000166340 HGNC:2073 TRDN gene TRDN Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Cardiac arrhythmia syndrome, with or without skeletal muscle weakness False 2 0;0;0 0.508 False ENSG00000186439 ENSG00000186439 HGNC:12261 TREX1 gene TREX1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1, autosomal recessive False 2 0;0;0 0.508 False ENSG00000213689 ENSG00000213689 HGNC:12269 TRMU gene TRMU Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Liver failure, transient infantile False 2 0;0;0 0.508 False ENSG00000100416 ENSG00000100416 HGNC:25481 TRNT1 gene TRNT1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal TRNT1 associated hypogammaglobulinemia False 2 0;0;0 0.508 False ENSG00000072756 ENSG00000072756 HGNC:17341 TSC1 gene TSC1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis-1 False 2 0;0;0 0.508 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis-2 False 2 0;0;0 0.508 False ENSG00000103197 ENSG00000103197 HGNC:12363 TSR2 gene TSR2 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Diamond-Blackfan anemia 14 with mandibulofacial dysostosis False 2 0;0;0 0.508 False ENSG00000158526 ENSG00000158526 HGNC:25455 TTR gene TTR Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Transthyretin associated hereditary amyloidosis False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000118271 ENSG00000118271 HGNC:12405 TXNRD2 gene TXNRD2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 5 False 2 0;0;0 0.508 False ENSG00000184470 ENSG00000184470 HGNC:18155 UBE2T gene UBE2T Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group T False 2 0;0;0 0.508 False ENSG00000077152 ENSG00000077152 HGNC:25009 USP18 gene USP18 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 2 False 2 0;0;0 0.508 False ENSG00000184979 ENSG00000184979 HGNC:12616 VKORC1 gene VKORC1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Vitamin K-dependent clotting factors, combined deficiency of, 2 False 2 0;0;0 0.508 False ENSG00000167397 ENSG00000167397 HGNC:23663 WDR1 gene WDR1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Periodic fever, immunodeficiency, and thrombocytopenia syndrome False 2 0;0;0 0.508 False ENSG00000071127 ENSG00000071127 HGNC:12754 WIPF1 gene WIPF1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Wiskott-Aldrich syndrome 2 False 2 0;0;0 0.508 False ENSG00000115935 ENSG00000115935 HGNC:12736 WNK4 gene WNK4 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudohypoaldosteronism, type IIB False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000126562 ENSG00000126562 HGNC:14544 XRCC2 gene XRCC2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group U False 2 0;0;0 0.508 False ENSG00000196584 ENSG00000196584 HGNC:12829 ZFP57 gene ZFP57 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Autosomal recessive diabetes mellitus, transient neonatal 1 False 2 0;0;0 0.508 False ENSG00000204644 ENSG00000204644 HGNC:18791 ZNF143 gene ZNF143 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype False 2 0;0;0 0.508 False ENSG00000166478 ENSG00000166478 HGNC:12928