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 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Acyl-CoA dehydrogenase, medium chain, deficiency of 201450" False 3 100;0;0 1.22 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADVL gene ACADVL Emory Genetics Laboratory;Expert Review Green Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "VLCAD deficiency 201475" False 3 100;0;0 1.22 False ENSG00000072778 ENSG00000072778 HGNC:92 ALDH18A1 gene ALDH18A1 Expert Review;Expert Review Green Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150;ALDH18A1-related de Barsy syndrome MONDO:0009053 11092761;24767728 False 3 100;0;0 1.22 False ENSG00000059573 ENSG00000059573 HGNC:9722 ARG1 gene ARG1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Argininemia, OMIM:207800 False 3 100;0;0 1.22 False ENSG00000118520 ENSG00000118520 HGNC:663 ASL gene ASL Emory Genetics Laboratory;Expert Review Green;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Argininosuccinic aciduria 207900" 2263616;12408190 False 3 100;0;0 1.22 False ENSG00000126522 ENSG00000126522 HGNC:746 ASS1 gene ASS1 Emory Genetics Laboratory;Expert Review Green;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Citrullinemia 215700" 2358466 False 3 100;0;0 1.22 False ENSG00000130707 ENSG00000130707 HGNC:758 AUH gene AUH Emory Genetics Laboratory;Expert Review Green Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "3-methylglutaconic aciduria, type I 250950" False 3 100;0;0 1.22 False ENSG00000148090 ENSG00000148090 HGNC:890 BCKDHA gene BCKDHA Emory Genetics Laboratory;Expert Review Green Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Maple syrup urine disease, type Ia 248600" False 3 100;0;0 1.22 False ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Emory Genetics Laboratory;Expert Review Green Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Maple syrup urine disease, type Ib 248600" False 3 100;0;0 1.22 False ENSG00000083123 ENSG00000083123 HGNC:987 CA5A gene CA5A Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Hyperammonemia due to carbonic anhydrase VA deficiency 615751" 24530203 False 3 100;0;0 1.22 False ENSG00000174990 ENSG00000174990 HGNC:1377 CPS1 gene CPS1 Emory Genetics Laboratory;Expert Review Green;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Carbamoylphosphate synthetase I deficiency 237300" False 3 100;0;0 1.22 False ENSG00000021826 ENSG00000021826 HGNC:2323 CPT1A gene CPT1A Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "CPT deficiency, hepatic, type IA 255120" False 3 100;0;0 1.22 False ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, infantile, OMIM:600649;CPT II deficiency, lethal neonatal, OMIM:608836 False 3 100;0;0 1.22 False ENSG00000157184 ENSG00000157184 HGNC:2330 DBT gene DBT Emory Genetics Laboratory;Expert Review Green Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Maple syrup urine disease, type II 248600" False 3 100;0;0 1.22 False ENSG00000137992 ENSG00000137992 HGNC:2698 ETFA gene ETFA Emory Genetics Laboratory;Expert Review Green Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 False 3 100;0;0 1.22 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Emory Genetics Laboratory;Expert Review Green Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 7912128;12815589;25929793;27604308;30847515;32550677;27081516 False 3 100;0;0 1.22 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Emory Genetics Laboratory;Expert Review Green Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Glutaric acidemia IIC 231680" False 3 100;0;0 1.22 False ENSG00000171503 ENSG00000171503 HGNC:3483 GLUD1 gene GLUD1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism-hyperammonemia syndrome, 606762 11214910;10636977 False 3 100;0;0 1.22 False ENSG00000148672 ENSG00000148672 HGNC:4335 HADHA gene HADHA Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency 609015 False 3 100;0;0 1.22 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency 609015 False 3 100;0;0 1.22 False ENSG00000138029 ENSG00000138029 HGNC:4803 HLCS gene HLCS Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Holocarboxylase synthetase deficiency 253270" False 3 100;0;0 1.22 False ENSG00000159267 ENSG00000159267 HGNC:4976 HMGCL gene HMGCL Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 1.22 False ENSG00000117305 ENSG00000117305 HGNC:5005 IVD gene IVD Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Isovaleric acidemia 243500" 26018748;23587913;23063737;24019846 False 3 100;0;0 1.22 False ENSG00000128928 ENSG00000128928 HGNC:6186 MLYCD gene MLYCD Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "malonic aciduria;Malonyl-CoA decarboxylase deficiency 248360" 12955715;10417274;10455107 False 3 100;0;0 1.22 False ENSG00000103150 ENSG00000103150 HGNC:7150 MMAA gene MMAA Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive 251100 15523652;12438653 False 3 100;0;0 1.22 False ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110 False 3 100;0;0 1.22 False ENSG00000139428 ENSG00000139428 HGNC:19331 MUT gene MUT Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, mut(0) type 251000 False 3 100;0;0 1.22 False ENSG00000146085 ENSG00000146085 HGNC:7526 NAGS gene NAGS Emory Genetics Laboratory;Expert Review Green;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "N-acetylglutamate synthase deficiency 237310" False 3 100;0;0 1.22 False ENSG00000161653 ENSG00000161653 HGNC:17996 OAT gene OAT Emory Genetics Laboratory;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Gyrate atrophy of choroid and retina with or without ornithinemia 258870" False 3 100;0;0 1.22 False ENSG00000065154 ENSG00000065154 HGNC:8091 OTC gene OTC Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Ornithine transcarbamylase deficiency, 311250 2983225 False 3 100;0;0 1.22 False ENSG00000036473 ENSG00000036473 HGNC:8512 PC gene PC Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Pyruvate carboxylase deficiency, OMIM:266150 False 3 100;0;0 1.22 False ENSG00000173599 ENSG00000173599 HGNC:8636 PCCA gene PCCA Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Propionicacidemia 606054 False 3 100;0;0 1.22 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Propionicacidemia 606054 False 3 100;0;0 1.22 False ENSG00000114054 ENSG00000114054 HGNC:8654 POLG gene POLG Emory Genetics Laboratory;Expert Review Green Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700" False 3 100;0;0 1.22 False ENSG00000140521 ENSG00000140521 HGNC:9179 PYGM gene PYGM Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal McArdle disease 232600 False 3 100;0;0 1.22 False ENSG00000068976 ENSG00000068976 HGNC:9726 SERAC1 gene SERAC1 Emory Genetics Laboratory;Expert Review Green Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739;Hypoglycemia 29205472;22683713;16527507;28482397;28778788;27186703;27604308 False 3 50;0;50 1.22 False ENSG00000122335 ENSG00000122335 HGNC:21061 SLC22A5 gene SLC22A5 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, OMIM:212140;systemic primary carnitine deficiency disease, MONDO:0008919 10545605;11261427 False 3 100;0;0 1.22 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A13 gene SLC25A13 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Citrullinemia, adult-onset type II 603471 False 3 100;0;0 1.22 False ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A15 gene SLC25A15 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970 False 3 100;0;0 1.22 False ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A20 gene SLC25A20 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency 212138 False 3 100;0;0 1.22 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC7A7 gene SLC7A7 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance 222700 False 3 100;0;0 1.22 False ENSG00000155465 ENSG00000155465 HGNC:11065 TMEM70 gene TMEM70 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052" 26550569;24740313;21147908 False 3 100;0;0 1.22 False ENSG00000175606 ENSG00000175606 HGNC:26050