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 A4GALT gene A4GALT Victorian Clinical Genetics Services;Expert Review Red;Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown [Blood group, P1Pk system, p phenotype], MIM# 111400 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 False ENSG00000128274 ENSG00000128274 HGNC:18149 ABCB6 gene ABCB6 Expert Review Red Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial pseudohyperkalemia MONDO:0012204;Disorders of heme synthesis and porphyrias Abnormality of metabolism/homeostasis;HP:0001939 24947683 False 1 0;0;0 8.460 False ENSG00000115657 ENSG00000115657 HGNC:47 ABCD3 gene ABCD3 Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 5 (MIM#616278) Abnormality of metabolism/homeostasis;HP:0001939 25168382 False 1 0;0;100 8.460 True ENSG00000117528 ENSG00000117528 HGNC:67 ACADL gene ACADL Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Pulmonary surfactant dysfunction Abnormality of metabolism/homeostasis;HP:0001939 24591516;31399326 False 1 0;0;100 8.460 True ENSG00000115361 ENSG00000115361 HGNC:88 ACSL5 gene ACSL5 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Diarrhoea 13, MIM# 620357" Abnormality of metabolism/homeostasis;HP:0001939 PMID: 33191500 False 1 0;0;100 8.460 True ENSG00000197142 ENSG00000197142 HGNC:16526 AGPS gene AGPS Expert Review Red Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 1, 608594 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 False ENSG00000018510 ENSG00000018510 HGNC:327 AGXT2 gene AGXT2 Expert Review Red Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Beta-aminoisobutyric acid, urinary excretion of MIM#210100 Abnormality of metabolism/homeostasis;HP:0001939 21572414 False 1 0;0;0 8.460 False ENSG00000113492 ENSG00000113492 HGNC:14412 AKT2 gene AKT2 Expert Review Red;NHS GMS Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes mellitus, type II, 125853 Abnormality of metabolism/homeostasis;HP:0001939 17576055;15166380;17327441 False 1 0;0;100 8.460 True ENSG00000105221 ENSG00000105221 HGNC:392 ALDH1A3 gene ALDH1A3 Expert Review Red Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Isolated microphthalmia 8 MONDO:0014050;Other disorders of vitamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 23312594, 23591992, 30200890 False 1 0;0;0 8.460 False ENSG00000184254 ENSG00000184254 HGNC:409 ALDOB gene ALDOB Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Fructose intolerance, hereditary, MIM# 229600 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000136872 ENSG00000136872 HGNC:417 ALG10 gene ALG10 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, ALG10-related Abnormality of metabolism/homeostasis;HP:0001939 33798445 False 1 0;0;100 8.460 True ENSG00000139133 ENSG00000139133 HGNC:23162 ALG2 gene ALG2 Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ii (MIM# 607906) Abnormality of metabolism/homeostasis;HP:0001939 12684507;23404334;24461433 False 1 0;0;100 8.460 True ENSG00000119523 ENSG00000119523 HGNC:23159 ALPL gene ALPL Expert review Green Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal disorder of bone metabolism;Hypophosphatasia;Disorders of pyridoxine metabolism Abnormality of metabolism/homeostasis;HP:0001939 3174660, 1409720 False 1 0;0;0 8.460 False ENSG00000162551 ENSG00000162551 HGNC:438 ALPL gene ALPL Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypophosphatasia Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000162551 ENSG00000162551 HGNC:438 AMPD1 gene AMPD1 Expert Review Red;Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal adenosine monophosphate deaminase deficiency MONDO:0013028 Abnormality of metabolism/homeostasis;HP:0001939 27296017;21343608 False 1 0;0;100 8.460 False ENSG00000116748 ENSG00000116748 HGNC:468 AMPD3 gene AMPD3 Expert Review Red;Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal adenosine monophosphate deaminase deficiency MONDO:0013028 Abnormality of metabolism/homeostasis;HP:0001939 8004104;24940686;11139257 False 1 0;50;50 8.460 False ENSG00000133805 ENSG00000133805 HGNC:470 APOC3 gene APOC3 Expert Review Red;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Apolipoprotein C-III deficiency MIM#614028 Abnormality of metabolism/homeostasis;HP:0001939 PMID: 19074352 False 1 0;0;100 8.460 True ENSG00000110245 ENSG00000110245 HGNC:610 APPL1 gene APPL1 Expert Review Red;NHS GMS;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Maturity-onset diabetes of the young, type 14}, 616511;Diabetes Abnormality of metabolism/homeostasis;HP:0001939 26073777;36208030 False 1 0;0;100 8.460 True ENSG00000157500 ENSG00000157500 HGNC:24035 ARHGEF9 gene ARHGEF9 Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Epileptic encephalopathy, early infantile, 8, MIM# 300607 Abnormality of metabolism/homeostasis;HP:0001939 31942680;30048823;29130122;28620718 False 1 0;0;100 8.460 True ENSG00000131089 ENSG00000131089 HGNC:14561 ATP5F1 gene ATP5F1 Expert Review Red;Expert list Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085 Abnormality of metabolism/homeostasis;HP:0001939 36239646 False 1 0;0;100 8.460 True ENSG00000116459 ENSG00000116459 HGNC:840 ATPAF2 gene ATPAF2 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 False ENSG00000171953 ENSG00000171953 HGNC:18802 BCO1 gene BCO1 Expert Review Red Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Other disorders of vitamin metabolism;hereditary hypercarotenemia and vitamin A deficiency MONDO:0007272 Abnormality of metabolism/homeostasis;HP:0001939 17951468 False 1 0;0;0 8.460 False ENSG00000135697 ENSG00000135697 HGNC:13815 BLK gene BLK Expert Review Red;Radboud University Medical Center, Nijmegen;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity-onset diabetes of the young, type 11, 613375;Maturity Onset Diabetes of the Young Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 False ENSG00000136573 ENSG00000136573 HGNC:1057 CAMLG gene CAMLG Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type IIz, OMIM #: 620201 Abnormality of metabolism/homeostasis;HP:0001939 PMID: 35262690 False 1 0;0;100 8.460 True ENSG00000164615 ENSG00000164615 HGNC:1471 CAV1 gene CAV1 Expert Review Red Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 3, 612526;Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome Abnormality of metabolism/homeostasis;HP:0001939 18211975 False 1 0;50;50 8.460 True ENSG00000105974 ENSG00000105974 HGNC:1527 CHST8 gene CHST8 Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peeling Skin Syndrome Abnormality of metabolism/homeostasis;HP:0001939 22289416;28204496 False 1 0;0;100 8.460 True ENSG00000124302 ENSG00000124302 HGNC:15993 CIDEC gene CIDEC Expert Review Red Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal CIDEC-related familial partial lipodystrophy MONDO:0014098 Abnormality of metabolism/homeostasis;HP:0001939 20049731 False 1 0;0;100 8.460 True ENSG00000187288 ENSG00000187288 HGNC:24229 COA3 gene COA3 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 14, MIM#619058 Abnormality of metabolism/homeostasis;HP:0001939 25604084 False 1 0;0;100 8.460 True ENSG00000183978 ENSG00000183978 HGNC:24990 COA5 gene COA5 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 Abnormality of metabolism/homeostasis;HP:0001939 21457908 False 1 0;0;100 8.460 True ENSG00000183513 ENSG00000183513 HGNC:33848 COG2 gene COG2 Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIq (MIM# 617395) Abnormality of metabolism/homeostasis;HP:0001939 24784932 False 1 0;0;100 8.460 True ENSG00000135775 ENSG00000135775 HGNC:6546 COQ5 gene COQ5 Expert Review Red;Expert list;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary 9, MIM#619028;Cerebellar ataxia;encephalopathy;generalized tonic-clonic seizures;intellectual disability Abnormality of metabolism/homeostasis;HP:0001939 29044765 False 1 0;0;100 8.460 True ENSG00000110871 ENSG00000110871 HGNC:28722 COQ9 gene COQ9 Expert Review Red;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0013840 Abnormality of metabolism/homeostasis;HP:0001939 19375058;26081641;31821167;11562630 False 1 0;0;100 8.460 True ENSG00000088682 ENSG00000088682 HGNC:25302 COX18 gene COX18 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease (MONDO:0044970), COX18-related Abnormality of metabolism/homeostasis;HP:0001939 PMID:37468577 False 1 0;0;100 8.460 True ENSG00000163626 ENSG00000163626 HGNC:26801 COX4I2 gene COX4I2 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714 Abnormality of metabolism/homeostasis;HP:0001939 19268275;22730437 False 1 0;0;100 8.460 True ENSG00000131055 ENSG00000131055 HGNC:16232 COX8A gene COX8A Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 15, MIM#619059 Abnormality of metabolism/homeostasis;HP:0001939 26685157 False 1 0;0;100 8.460 True ENSG00000176340 ENSG00000176340 HGNC:2294 CYBRD1 gene CYBRD1 Expert Review Red;NHS Genomic Medicine Service;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Iron metabolism disease, MONDO:0002279, CYBRD1-related Abnormality of metabolism/homeostasis;HP:0001939 15338274;27884173 False 1 0;0;100 8.460 True ENSG00000071967 ENSG00000071967 HGNC:20797 DMGDH gene DMGDH Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal dimethylglycine dehydrogenase deficiency MONDO:0011610 Abnormality of metabolism/homeostasis;HP:0001939 11231903 False 1 0;0;100 8.460 True ENSG00000132837 ENSG00000132837 HGNC:24475 DMXL2 gene DMXL2 Expert Review Red;Other Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Polyendocrine-polyneuropathy syndrome , MIM# 616113" Abnormality of metabolism/homeostasis;HP:0001939 30237576;31688942;27657680;25248098 False 1 0;0;100 8.460 True ENSG00000104093 ENSG00000104093 HGNC:2938 DSE gene DSE Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539) Abnormality of metabolism/homeostasis;HP:0001939 23704329 False 1 0;0;100 8.460 True ENSG00000111817 ENSG00000111817 HGNC:21144 EPHX1 gene EPHX1 Expert Review Red Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Familial hypercholanemia MONDO:0011905;Other disorders of vitamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 34342583 False 1 0;0;0 8.460 False ENSG00000143819 ENSG00000143819 HGNC:3401 ERCC6L2 gene ERCC6L2 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 2, MIM#615715 Abnormality of metabolism/homeostasis;HP:0001939 29987015;24507776 False 1 0;100;0 8.460 True ENSG00000182150 ENSG00000182150 HGNC:26922 FOXC2 gene FOXC2 Radboud University Medical Center, Nijmegen;Expert Review Red Metabolic Disorders Superpanel Metabolic disorders Unknown Lymphedema-distichiasis syndrome, 153400;Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;100;0 8.460 False ENSG00000176692 ENSG00000176692 HGNC:3801 FTH1 gene FTH1 Expert Review Red;NHS Genomic Medicine Service;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Hemochromatosis, type 5, MIM# 615517" Abnormality of metabolism/homeostasis;HP:0001939 11389486 False 1 0;0;100 8.460 True ENSG00000167996 ENSG00000167996 HGNC:3976 GATB gene GATB Expert Review Red;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial cardiomyopathy Abnormality of metabolism/homeostasis;HP:0001939 30283131 False 1 0;0;100 8.460 True ENSG00000059691 ENSG00000059691 HGNC:8849 GATC gene GATC Expert Review Red;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial cardiomyopathy Abnormality of metabolism/homeostasis;HP:0001939 30283131 False 1 0;0;100 8.460 True ENSG00000257218 ENSG00000257218 HGNC:25068 GCSH gene GCSH Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy MIM#605899;Disorders of serine, glycine or glycerate metabolism Abnormality of metabolism/homeostasis;HP:0001939 1671321;27604308 False 1 0;0;100 8.460 True ENSG00000140905 ENSG00000140905 HGNC:4208 GET4 gene GET4 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation,, type IIy MIM#620200 Abnormality of metabolism/homeostasis;HP:0001939 32395830 False 1 0;0;100 8.460 True ENSG00000239857 ENSG00000239857 HGNC:21690 GMPR gene GMPR Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted progressive external ophthalmoplegia Abnormality of metabolism/homeostasis;HP:0001939 31600844 False 1 0;100;0 8.460 True ENSG00000137198 ENSG00000137198 HGNC:4376 GNMT gene GNMT Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal glycine N-methyltransferase deficiency MONDO:0011698 Abnormality of metabolism/homeostasis;HP:0001939 11810299;14739680 False 1 0;0;100 8.460 True ENSG00000124713 ENSG00000124713 HGNC:4415 GPHN gene GPHN Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency C, MIM# 615501 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000171723 ENSG00000171723 HGNC:15465 GSTZ1 gene GSTZ1 Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal maleylacetoacetate isomerase deficiency MONDO:0060527 Abnormality of metabolism/homeostasis;HP:0001939 27876694 False 1 0;0;100 8.460 True ENSG00000100577 ENSG00000100577 HGNC:4643 HAL gene HAL Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal histidinemia MONDO:0009345 Abnormality of metabolism/homeostasis;HP:0001939 15806399 False 1 0;0;100 8.460 True ENSG00000084110 ENSG00000084110 HGNC:4806 HEPH gene HEPH Expert Review Red;NHS Genomic Medicine Service;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Iron metabolism defect Abnormality of metabolism/homeostasis;HP:0001939 30182051;30060949 False 1 0;0;100 8.460 True ENSG00000089472 ENSG00000089472 HGNC:4866 HFE gene HFE Expert Review Red;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Porphyria cutanea tarda, susceptibility to}, 176100;{Porphyria variegata, susceptibility to}, 176200 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000010704 ENSG00000010704 HGNC:4886 HIBADH gene HIBADH Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutyric aciduria MONDO:0009371 Abnormality of metabolism/homeostasis;HP:0001939 34176136;35174513 False 1 0;0;100 8.460 True ENSG00000106049 ENSG00000106049 HGNC:4907 HIBADH gene HIBADH Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal organic aciduria Abnormality of metabolism/homeostasis;HP:0001939 34176136 False 1 0;0;100 8.460 True ENSG00000106049 ENSG00000106049 HGNC:4907 HYKK gene HYKK Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders Unknown inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351 Abnormality of metabolism/homeostasis;HP:0001939 23242558 False 1 0;0;100 8.460 True ENSG00000188266 ENSG00000188266 HGNC:34403 KIF5A gene KIF5A Expert Review Green;Expert Review Red;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonus, intractable, neonatal MIM#617235 Abnormality of metabolism/homeostasis;HP:0001939 27463701;27414745 False 1 50;50;0 8.460 True Other ENSG00000155980 ENSG00000155980 HGNC:6323 KLF11 gene KLF11 Expert Review Red;Expert Review;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity-onset diabetes of the young, type VII, 610508;Maturity Onset Diabetes of the Young Abnormality of metabolism/homeostasis;HP:0001939 15774581;26248217;23589285;31124255;35108381 False 1 0;100;0 8.460 True ENSG00000172059 ENSG00000172059 HGNC:11811 KMO gene KMO Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal pellagra MONDO:0019975 Abnormality of metabolism/homeostasis;HP:0001939 28187857, 24189070 False 1 0;0;100 8.460 True ENSG00000117009 ENSG00000117009 HGNC:6381 LIPC gene LIPC Expert Review Red;Radboud University Medical Center, Nijmegen Metabolic Disorders Superpanel Metabolic disorders Unknown {Diabetes mellitus, noninsulin-dependent}, MIM#125853 Abnormality of metabolism/homeostasis;HP:0001939 1671786;12777476;1883393;22798447;15126514;18364377;32617858 False 1 0;0;100 8.460 True ENSG00000166035 ENSG00000166035 HGNC:6619 MAN2A2 gene MAN2A2 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated Abnormality of metabolism/homeostasis;HP:0001939 36357165 False 1 0;0;100 8.460 True ENSG00000196547 ENSG00000196547 HGNC:6825 ME2 gene ME2 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal inborn disorder of energy metabolism MONDO:0019243 Abnormality of metabolism/homeostasis;HP:0001939 39401966 False 1 0;0;100 8.460 True ENSG00000082212 ENSG00000082212 HGNC:6984 MICU2 gene MICU2 Expert Review Red;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal cognitive impairment;spasticity;white matter involvement Abnormality of metabolism/homeostasis;HP:0001939 29053821 False 1 0;0;100 8.460 True ENSG00000165487 ENSG00000165487 HGNC:31830 MIEF1 gene MIEF1 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Optic atrophy 14 (MIM#620550) Abnormality of metabolism/homeostasis;HP:0001939 33632269 False 1 0;100;0 8.460 True ENSG00000100335 ENSG00000100335 HGNC:25979 MIEF2 gene MIEF2 Expert Review Red;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 49, MIM# 619024;Progressive muscle weakness;Exercise intolerance;Ragged red and COX negative fibres;Complex I and IV deficiency Abnormality of metabolism/homeostasis;HP:0001939 29361167 False 1 0;0;100 8.460 True ENSG00000177427 ENSG00000177427 HGNC:17920 MPST gene MPST Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders Unknown encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0009585 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000128309 ENSG00000128309 HGNC:7223 MRPL12 gene MRPL12 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Growth retardation;neurological deterioration;mitochondrial translation deficiency;Combined oxidative phosphorylation deficiency 45, MIM#618951 Abnormality of metabolism/homeostasis;HP:0001939 23603806 False 1 0;0;100 8.460 True ENSG00000262814 ENSG00000262814 HGNC:10378 MRPL42 gene MRPL42 Expert Review Red;Other Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000198015 ENSG00000198015 HGNC:14493 MRPS25 gene MRPS25 Expert Review Red;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 50, MIM# 619025;Dyskinetic cerebral palsy;Mitochondrial myopathy;Partial agenesis of the corpus callosum" Abnormality of metabolism/homeostasis;HP:0001939 31039582 False 1 0;0;100 8.460 True ENSG00000131368 ENSG00000131368 HGNC:14511 MRPS28 gene MRPS28 Expert Review Red;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Intrauterine growth retardation;developmental delay;dysmorphism;Combined oxidative phosphorylation deficiency 47, MIM618958 Abnormality of metabolism/homeostasis;HP:0001939 30566640 False 1 0;0;100 8.460 True ENSG00000147586 ENSG00000147586 HGNC:14513 MT-RNR2 gene MT-RNR2 Expert Review Red;Literature;Expert Review Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Abnormality of metabolism/homeostasis;HP:0001939 29233888 False 1 0;0;100 8.460 True ENSG00000210082 ENSG00000210082 HGNC:7471 MT-TT gene MT-TT Expert Review Red;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000210195 ENSG00000210195 HGNC:7499 NAT8L gene NAT8L Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal N-acetylaspartate deficiency MONDO:0013549 Abnormality of metabolism/homeostasis;HP:0001939 19807691 False 1 0;0;100 8.460 True ENSG00000185818 ENSG00000185818 HGNC:26742 NAT8L gene NAT8L Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal N-acetylaspartate deficiency - MIM#614063 Abnormality of metabolism/homeostasis;HP:0001939 11310630;19807691;32275776 False 1 0;50;50 8.460 True ENSG00000185818 ENSG00000185818 HGNC:26742 NDUFAF7 gene NDUFAF7 Expert Review Red;NHS GMS Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pathologic myopia Abnormality of metabolism/homeostasis;HP:0001939 28837730 False 1 0;0;100 8.460 True ENSG00000003509 ENSG00000003509 HGNC:28816 NME3 gene NME3 Expert Review Red;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia;Neurodegeneration;Abnormal mitochondrial dynamics Abnormality of metabolism/homeostasis;HP:0001939 30587587 False 1 0;0;100 8.460 True ENSG00000103024 ENSG00000103024 HGNC:7851 OAT gene OAT Expert Review Red;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Gyrate atrophy of choroid and retina with or without ornithinemia 258870" Abnormality of metabolism/homeostasis;HP:0001939 33068755;1618792;2220818;3339136;3417397;2916581;1737786;33463379 False 1 0;0;100 8.460 True ENSG00000065154 ENSG00000065154 HGNC:8091 OPLAH gene OPLAH Expert Review Red;Other Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 5-oxoprolinase deficiency MONDO:0009825;Disorders of glutathione metabolism Abnormality of metabolism/homeostasis;HP:0001939 27477828;27604308 False 1 0;0;100 8.460 True ENSG00000178814 ENSG00000178814 HGNC:8149 OSTC gene OSTC Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Oligosaccharyltransferase complex-congenital disorders of glycosylation Abnormality of metabolism/homeostasis;HP:0001939 PMID: 32267060 False 1 0;0;100 8.460 True ENSG00000198856 ENSG00000198856 HGNC:24448 PAPSS2 gene PAPSS2 Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847 Abnormality of metabolism/homeostasis;HP:0001939 22791835;25594860;31461705;23633440;9771708;19474428 False 1 0;0;100 8.460 True ENSG00000198682 ENSG00000198682 HGNC:8604 PAX4 gene PAX4 Expert Review Red;Radboud University Medical Center, Nijmegen;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Maturity-onset diabetes of the young, type IX MIM#612225 Abnormality of metabolism/homeostasis;HP:0001939 17426099;14561778;25951767;21263211 False 1 67;0;33 8.460 True ENSG00000106331 ENSG00000106331 HGNC:8618 PAX6 gene PAX6 Expert Review Red;NHS GMS Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Monogenic diabetes, MONDO:0015967, PAX6-related Abnormality of metabolism/homeostasis;HP:0001939 36202929;22153401;11756345 False 1 0;0;100 8.460 True ENSG00000007372 ENSG00000007372 HGNC:8620 PET117 gene PET117 Expert Review Red;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063;Developmental delay Abnormality of metabolism/homeostasis;HP:0001939 28386624 False 1 0;0;100 8.460 True ENSG00000232838 ENSG00000232838 HGNC:40045 PHYKPL gene PHYKPL Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal phosphohydroxylysinuria MONDO:0014008 Abnormality of metabolism/homeostasis;HP:0001939 23242558 False 1 0;0;100 8.460 True ENSG00000175309 ENSG00000175309 HGNC:28249 PIGF gene PIGF Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356 Abnormality of metabolism/homeostasis;HP:0001939 33386993 False 1 0;0;100 8.460 True ENSG00000151665 ENSG00000151665 HGNC:8962 PNPLA4 gene PNPLA4 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Abnormality of metabolism/homeostasis;HP:0001939 26741492 False 1 0;0;100 8.460 True ENSG00000006757 ENSG00000006757 HGNC:24887 POGLUT1 gene POGLUT1 Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696) Abnormality of metabolism/homeostasis;HP:0001939 27807076;24387993 False 1 0;100;0 8.460 True ENSG00000163389 ENSG00000163389 HGNC:22954 PPA1 gene PPA1 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Galactosaemia, MONDO:0018116 Abnormality of metabolism/homeostasis;HP:0001939 37999237 False 1 0;0;100 8.460 True ENSG00000180817 ENSG00000180817 HGNC:9226 PPARG gene PPARG Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000132170 ENSG00000132170 HGNC:9236 PRODH2 gene PRODH2 Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hydroxyprolinemia MONDO:0009374 Abnormality of metabolism/homeostasis;HP:0001939 27139199 False 1 0;0;100 8.460 True ENSG00000250799 ENSG00000250799 HGNC:17325 PTCD1 gene PTCD1 Expert Review Red;Expert Review Red;NHS GMS;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy Abnormality of metabolism/homeostasis;HP:0001939 25058219 False 1 0;0;100 8.460 True ENSG00000106246 ENSG00000106246 HGNC:22198 PYROXD2 gene PYROXD2 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970 Abnormality of metabolism/homeostasis;HP:0001939 35055180 False 1 0;0;100 8.460 True ENSG00000119943 ENSG00000119943 HGNC:23517 RBP3 gene RBP3 Expert Review Red Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 66 MONDO:0014093;Other disorders of vitamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;0 8.460 False ENSG00000107618 ENSG00000265203 HGNC:9921 SARDH gene SARDH Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal sarcosinemia MONDO:0010008 Abnormality of metabolism/homeostasis;HP:0001939 22825317 False 1 0;0;100 8.460 True ENSG00000123453 ENSG00000123453 HGNC:10536 SDHAF2 gene SDHAF2 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders Unknown Paragangliomas 2, MIM# 601650 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000167985 ENSG00000167985 HGNC:26034 SDHC gene SDHC Expert Review Red Metabolic Disorders Superpanel Metabolic disorders Unknown Mitochondrial disease MONDO:0044970 Abnormality of metabolism/homeostasis;HP:0001939 31469588;29884839 False 1 0;0;0 8.460 False ENSG00000143252 ENSG00000143252 HGNC:10682 SEC23A gene SEC23A Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Craniolenticulosutural dysplasia (MIM# 607812) Abnormality of metabolism/homeostasis;HP:0001939 16980979;21039434;16980978;27148587 False 1 0;0;100 8.460 True ENSG00000100934 ENSG00000100934 HGNC:10701 SLC10A2 gene SLC10A2 Expert Review Red Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal bile acid malabsorption, primary, 1 MONDO:0013214;Disorders of bile acid metabolism Abnormality of metabolism/homeostasis;HP:0001939 9109432 False 1 0;0;0 8.460 False ENSG00000125255 ENSG00000125255 HGNC:10906 SLC25A22 gene SLC25A22 Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 3, MIM# 609304 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000177542 ENSG00000177542 HGNC:19954 SLC27A5 gene SLC27A5 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bile acid-CoA ligase deficiency;Disorders of bile acid biosynthesis Abnormality of metabolism/homeostasis;HP:0001939 22089923;27604308 False 1 0;0;100 8.460 True ENSG00000083807 ENSG00000083807 HGNC:10999 SLC29A1 gene SLC29A1 Expert Review Red Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;0 8.460 False ENSG00000112759 ENSG00000112759 HGNC:11003 SLC36A2 gene SLC36A2 Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal iminoglycinuria MONDO:0009448 Abnormality of metabolism/homeostasis;HP:0001939 19033659;26141664 False 1 0;0;100 8.460 True ENSG00000186335 ENSG00000186335 HGNC:18762 SLC6A20 gene SLC6A20 Expert Review Red;Other Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperglycinuria MONDO:0007677 Abnormality of metabolism/homeostasis;HP:0001939 36820062;19033659;24816252 False 1 0;0;100 8.460 True ENSG00000163817 ENSG00000163817 HGNC:30927 SLC7A5 gene SLC7A5 Expert Review Red;Other Metabolic Disorders Superpanel Metabolic disorders Unknown Large neutral amino acid transporter deficiency (MIM#600182) Abnormality of metabolism/homeostasis;HP:0001939 29884839 False 1 0;0;100 8.460 True ENSG00000103257 ENSG00000103257 HGNC:11063 SLIRP gene SLIRP Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial encephalomyopathy with complex I and IV deficiency Abnormality of metabolism/homeostasis;HP:0001939 34426662 False 1 0;0;0 8.460 True ENSG00000119705 ENSG00000119705 HGNC:20495 STAP1 gene STAP1 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial hypercholesterolemia MONDO:0005439 Abnormality of metabolism/homeostasis;HP:0001939 31809983;31996024;32208993 False 1 0;0;100 8.460 True ENSG00000035720 ENSG00000035720 HGNC:24133 STEAP3 gene STEAP3 Expert Review Red;NHS Genomic Medicine Service;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234 Abnormality of metabolism/homeostasis;HP:0001939 22031863;25515317;26675350 False 1 0;0;100 8.460 True ENSG00000115107 ENSG00000115107 HGNC:24592 STT3B gene STT3B Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ix 615597 Abnormality of metabolism/homeostasis;HP:0001939 23842455 False 1 0;0;100 8.460 True ENSG00000163527 ENSG00000163527 HGNC:30611 TDO2 gene TDO2 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypertryptophanemia MIM#600627;Disorders of histidine, tryptophan or lysine metabolism Abnormality of metabolism/homeostasis;HP:0001939 28285122;27604308 False 1 0;0;100 8.460 True ENSG00000151790 ENSG00000151790 HGNC:11708 TDO2 gene TDO2 Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal familial hypertryptophanemia MONDO:0010907 Abnormality of metabolism/homeostasis;HP:0001939 28285122 False 1 0;0;100 8.460 True ENSG00000151790 ENSG00000151790 HGNC:11708 THAP11 gene THAP11 Expert Review Red;Literature;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, cblC type-like, MIM# 620940;Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related Abnormality of metabolism/homeostasis;HP:0001939 28449119 False 1 0;0;100 8.460 True ENSG00000168286 ENSG00000168286 HGNC:23194 TPMT gene TPMT Expert Review Red;Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal {Thiopurines, poor metabolism of, 1} 610460 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 False ENSG00000137364 ENSG00000137364 HGNC:12014 TRIP11 gene TRIP11 Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Abnormality of metabolism/homeostasis;HP:0001939 29872333;20089971;30728324;30518689 False 1 0;50;50 8.460 True ENSG00000100815 ENSG00000100815 HGNC:12305 TTPA gene TTPA Expert Review green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal familial isolated deficiency of vitamin E MONDO:0010188;Other disorders of vitamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308, 7719340 False 1 0;0;0 8.460 False ENSG00000137561 ENSG00000137561 HGNC:12404 XPNPEP3 gene XPNPEP3 Expert Review Red;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 MIM#613159 Abnormality of metabolism/homeostasis;HP:0001939 20179356;25778941 False 1 0;50;50 8.460 True ENSG00000196236 ENSG00000196236 HGNC:28052