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 ACAD9 gene ACAD9 Emory Genetics Laboratory;Expert Review Red Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex I deficiency due to ACAD9 deficiency 611126;Reye-like presentation with hyperammonaemia" 17564966 False 1 0;0;100 1.22 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACADL gene ACADL Emory Genetics Laboratory;Expert Review Red Hyperammonaemia Urea Cycle disorders Metabolic disorders doi: 10.1038/ng.507;PMC3773904 False 1 0;0;100 1.22 False ENSG00000115361 ENSG00000115361 HGNC:88 ACADS gene ACADS Emory Genetics Laboratory;Expert Review Red Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Acyl-CoA dehydrogenase, short-chain, deficiency of 201470;SCAD deficiency" False 1 0;0;100 1.22 False ENSG00000122971 ENSG00000122971 HGNC:90 ACSF3 gene ACSF3 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000176715 ENSG00000176715 HGNC:27288 AGA gene AGA Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000038002 ENSG00000038002 HGNC:318 AGL gene AGL Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000162688 ENSG00000162688 HGNC:321 ARSA gene ARSA Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Metachromatic leukodystrophy 250100" False 1 0;0;100 1.22 False ENSG00000100299 ENSG00000100299 HGNC:713 ARSB gene ARSB Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200" False 1 0;0;100 1.22 False ENSG00000113273 ENSG00000113273 HGNC:714 ATPAF2 gene ATPAF2 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 604273" False 1 100;0;0 1.22 False ENSG00000171953 ENSG00000171953 HGNC:18802 CD320 gene CD320 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000167775 ENSG00000167775 HGNC:16692 CLN3 gene CLN3 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000182372 ENSG00000182372 HGNC:2079 CYP27A1 gene CYP27A1 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000135929 ENSG00000135929 HGNC:2605 DLD gene DLD Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000091140 ENSG00000091140 HGNC:2898 ENO3 gene ENO3 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000108515 ENSG00000108515 HGNC:3354 G6PC gene G6PC Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000131482 ENSG00000131482 HGNC:4056 GAA gene GAA Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000171298 ENSG00000171298 HGNC:4065 GALC gene GALC Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000054983 ENSG00000054983 HGNC:4115 GALNS gene GALNS Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000141012 ENSG00000141012 HGNC:4122 GBA gene GBA Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBE1 gene GBE1 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000114480 ENSG00000114480 HGNC:4180 GLA gene GLA Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000170266 ENSG00000170266 HGNC:4298 GM2A gene GM2A Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000196743 ENSG00000196743 HGNC:4367 GNPTAB gene GNPTAB Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000111670 ENSG00000111670 HGNC:29670 GYS1 gene GYS1 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000104812 ENSG00000104812 HGNC:4706 GYS2 gene GYS2 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000111713 ENSG00000111713 HGNC:4707 HGSNAT gene HGSNAT Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000165102 ENSG00000165102 HGNC:26527 HMGCS2 gene HMGCS2 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency 605911 False 1 0;0;100 1.22 False ENSG00000134240 ENSG00000134240 HGNC:5008 HYAL1 gene HYAL1 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000114378 ENSG00000114378 HGNC:5320 IDS gene IDS Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000127415 ENSG00000127415 HGNC:5391 LIPA gene LIPA Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000107798 ENSG00000107798 HGNC:6617 LMBRD1 gene LMBRD1 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000168216 ENSG00000168216 HGNC:23038 LPIN1 gene LPIN1 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000134324 ENSG00000134324 HGNC:13345 MAN2B1 gene MAN2B1 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000104774 ENSG00000104774 HGNC:6826 MANBA gene MANBA Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000109323 ENSG00000109323 HGNC:6831 MCCC1 gene MCCC1 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000131844 ENSG00000131844 HGNC:6937 MCEE gene MCEE Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000124370 ENSG00000124370 HGNC:16732 MCOLN1 gene MCOLN1 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000090674 ENSG00000090674 HGNC:13356 MFSD8 gene MFSD8 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000164073 ENSG00000164073 HGNC:28486 MMACHC gene MMACHC Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hyperammonaemia Urea Cycle disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Methylmalonic aciduria and homocystinuria, cblC type 277400" False 1 0;0;100 1.22 False ENSG00000132763 ENSG00000132763 HGNC:24525 MTR gene MTR Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000124275 ENSG00000124275 HGNC:7473 NAGA gene NAGA Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000198951 ENSG00000198951 HGNC:7631 NAGLU gene NAGLU Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000108784 ENSG00000108784 HGNC:7632 NEU1 gene NEU1 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000204386 ENSG00000204386 HGNC:7758 NPC1 gene NPC1 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000119655 ENSG00000119655 HGNC:14537 OPA3 gene OPA3 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000125741 ENSG00000125741 HGNC:8142 PFKM gene PFKM Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000152556 ENSG00000152556 HGNC:8877 PPT1 gene PPT1 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000131238 ENSG00000131238 HGNC:9325 PYGL gene PYGL Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000100504 ENSG00000100504 HGNC:9725 SGSH gene SGSH Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000181523 ENSG00000181523 HGNC:10818 SLC17A5 gene SLC17A5 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC37A4 gene SLC37A4 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000137700 ENSG00000137700 HGNC:4061 SMPD1 gene SMPD1 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000166311 ENSG00000166311 HGNC:11120 SUCLG1 gene SUCLG1 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000163541 ENSG00000163541 HGNC:11449 SUMF1 gene SUMF1 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000144455 ENSG00000144455 HGNC:20376 TAZ gene TAZ Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000102125 ENSG00000102125 HGNC:11577 TPP1 gene TPP1 Emory Genetics Laboratory Hyperammonaemia Urea Cycle disorders Metabolic disorders False 1 0;0;100 1.22 False ENSG00000166340 ENSG00000166340 HGNC:2073