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 AP2S1 gene AP2S1 Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown familial hypocalciuric hypercalcemia type III False 1 0;0;0 0.687 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000042753 ENSG00000042753 HGNC:565 APC gene APC Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Adenomatous polyposis coli False 1 0;0;0 0.687 False ENSG00000134982 ENSG00000134982 HGNC:583 BMPR1A gene BMPR1A Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polyposis, juvenile intestinal False 1 0;0;0 0.687 False ENSG00000107779 ENSG00000107779 HGNC:1076 CASR gene CASR Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown familial hypocalciuric hypercalcemia type I False 1 0;0;0 0.687 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000036828 ENSG00000036828 HGNC:1514 CHD7 gene CHD7 Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHARGE syndrome False 1 0;0;0 0.687 False ENSG00000171316 ENSG00000171316 HGNC:20626 GNA11 gene GNA11 Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypocalcemia, autosomal dominant 2 False 1 0;0;0 0.687 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000088256 ENSG00000088256 HGNC:4379 HFE gene HFE Expert Review Red Newborn Genomes Superpanel BIALLELIC, autosomal or pseudoautosomal Hemochromatosis False 1 0;0;0 0.687 False ENSG00000010704 ENSG00000010704 HGNC:4886 HNF1A gene HNF1A Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HNF1A associated MODY False 1 0;0;0 0.687 False ENSG00000135100 ENSG00000135100 HGNC:11621 HNF4A gene HNF4A Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HNF4A associated hyperinsulinism False 1 0;0;0 0.687 False ENSG00000101076 ENSG00000101076 HGNC:5024 HNF4A gene HNF4A Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HNF4A associated MODY False 1 0;0;0 0.687 False ENSG00000101076 ENSG00000101076 HGNC:5024 KL gene KL Expert Review Red Newborn Genomes Superpanel BIALLELIC, autosomal or pseudoautosomal Tumoral calcinosis, hyperphosphatemic, familial, 3 False 1 0;0;0 0.687 False ENSG00000133116 ENSG00000133116 HGNC:6344 KLF11 gene KLF11 Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity-onset diabetes of the young, type VII False 1 0;0;0 0.687 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000172059 ENSG00000172059 HGNC:11811 MLH1 gene MLH1 Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary nonpolyposis colorectal cancer-2 False 1 0;0;0 0.687 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary nonpolyposis colorectal cancer-1 False 1 0;0;0 0.687 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary nonpolyposis colorectal cancer-5 False 1 0;0;0 0.687 False ENSG00000116062 ENSG00000116062 HGNC:7329 MUTYH gene MUTYH Expert Review Red Newborn Genomes Superpanel BIALLELIC, autosomal or pseudoautosomal Adenomas, multiple colorectal False 1 0;0;0 0.687 False ENSG00000132781 ENSG00000132781 HGNC:7527 NF1 gene NF1 Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis type 1 False 1 0;0;0 0.687 False ENSG00000196712 ENSG00000196712 HGNC:7765 PKD1 gene PKD1 Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 1 False 1 0;0;0 0.687 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 2 False 1 0;0;0 0.687 False ENSG00000118762 ENSG00000118762 HGNC:9009 PMS2 gene PMS2 Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary nonpolyposis colorectal cancer-4 False 1 0;0;0 0.687 False ENSG00000122512 ENSG00000122512 HGNC:9122 SCARB2 gene SCARB2 Expert Review Red Newborn Genomes Superpanel BIALLELIC, autosomal or pseudoautosomal progressive myoclonic epilepsy 4 False 1 0;0;0 0.687 False ENSG00000138760 ENSG00000138760 HGNC:1665 SLC12A3 gene SLC12A3 Expert Review Red Newborn Genomes Superpanel BIALLELIC, autosomal or pseudoautosomal Gitelman syndrome False 1 0;0;0 0.687 False ENSG00000070915 ENSG00000070915 HGNC:10912 SLC30A2 gene SLC30A2 Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Transient neonatal zinc deficiency False 1 0;0;0 0.687 False ENSG00000158014 ENSG00000158014 HGNC:11013 SMAD4 gene SMAD4 Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polyposis, juvenile intestinal False 1 0;0;0 0.687 False ENSG00000141646 ENSG00000141646 HGNC:6770 TNFRSF13B gene TNFRSF13B Expert Review Red Newborn Genomes Superpanel BIALLELIC, autosomal or pseudoautosomal Common variable immune deficiency 2, autosomal recessive False 1 0;0;0 0.687 False ENSG00000240505 ENSG00000240505 HGNC:18153 TNFRSF13B gene TNFRSF13B Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Common variable immune deficiency 2, autosomal dominant False 1 0;0;0 0.687 False ENSG00000240505 ENSG00000240505 HGNC:18153 UCP2 gene UCP2 Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown UCP2 associated hyperinsulinism False 1 0;0;0 0.687 False ENSG00000175567 ENSG00000175567 HGNC:12518 UROD gene UROD Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Porphyria cutanea tarda False 1 0;0;0 0.687 False ENSG00000126088 ENSG00000126088 HGNC:12591 WDR72 gene WDR72 Expert Review Red Newborn Genomes Superpanel BIALLELIC, autosomal or pseudoautosomal WDR72 associated distal renal tubular acidosis False 1 0;0;0 0.687 False ENSG00000166415 ENSG00000166415 HGNC:26790 WFS1 gene WFS1 Expert Review Red Newborn Genomes Superpanel BIALLELIC, autosomal or pseudoautosomal Wolfram Syndrome 1 False 1 0;0;0 0.687 False ENSG00000109501 ENSG00000109501 HGNC:12762 WFS1 gene WFS1 Expert Review Red Newborn Genomes Superpanel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wolfram-like Syndrome False 1 0;0;0 0.687 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000109501 ENSG00000109501 HGNC:12762