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 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