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 ALG13 gene ALG13 Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "?Congenital disorder of glycosylation, type Is 300884;Epileptic encephalopathy, early infantile, 36 300884" 27604308;25732998;22492991 False 2 0;0;0 8.110 False ENSG00000101901 ENSG00000101901 HGNC:30881 ALG2 gene ALG2 Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 14, with tubular aggregates 616228;Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation);?Congenital disorder of glycosylation, type Ii 607906 12684507;23404334 False 2 0;0;100 8.110 False ENSG00000119523 ENSG00000119523 HGNC:23159 ATP5B gene ATP5B Expert Review Amber Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085 36239646;36860166 False 2 0;100;0 8.110 False ENSG00000110955 ENSG00000110955 HGNC:830 CD320 gene CD320 Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, transient, due to transcobalamin receptor defect, OMIM:613646;methylmalonic acidemia due to transcobalamin receptor defect, MONDO:0013341 20524213;22819238;23754956;27604308 False 2 0;100;0 8.110 False ENSG00000167775 ENSG00000167775 HGNC:16692 CLCN7 gene CLCN7 Expert Review Amber;Literature Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 31155284 False 2 0;100;0 8.110 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000103249 ENSG00000103249 HGNC:2025 COA3 gene COA3 Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Ostergaard et al., 2015, J. Med. Genet., 52, 203-207. False 2 50;50;0 8.110 False ENSG00000183978 ENSG00000183978 HGNC:24990 COASY gene COASY Expert list;Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6, 615643;Pontocerebellar hypoplasia, type 12, 618266 30089828;27021474;36495139 False 2 0;100;0 8.110 False ENSG00000068120 ENSG00000068120 HGNC:29932 COG3 gene COG3 Expert Review Amber;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, OMIM:620546 37711075 False 2 0;100;0 8.110 False ENSG00000136152 ENSG00000136152 HGNC:18619 COX4I2 gene COX4I2 Expert Review Amber;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714 27604308;19268275;22592081 False 2 50;0;50 8.110 False ENSG00000131055 ENSG00000131055 HGNC:16232 CSTB gene CSTB Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 27604308 False 2 0;0;0 8.110 False ENSG00000160213 ENSG00000160213 HGNC:2482 DCC gene DCC Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 2 28250456 False 2 0;100;0 8.110 False ENSG00000187323 ENSG00000187323 HGNC:2701 DHDDS gene DHDDS Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 59, OMIM:613861;?Congenital disorder of glycosylation, type 1bb, OMIM:613861 21295282;21295283;27343064 False 2 0;0;0 8.110 False ENSG00000117682 ENSG00000117682 HGNC:20603 EHHADH gene EHHADH Expert Review Amber;Literature Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Fanconi renotubular syndrome 3, OMIM:615605;L-bifunctional protein deficiency;Metabolic acidosis;Increased amino acids in urine 24401050;27160910;33340416 False 2 0;100;0 8.110 False ENSG00000113790 ENSG00000113790 HGNC:3247 ERAL1 gene ERAL1 Expert list;Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 6, 617565 28449065 False 2 0;0;0 8.110 False ENSG00000132591 ENSG00000132591 HGNC:3424 GATC gene GATC Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 42, OMIM:618839 30283131 False 2 0;100;0 8.110 False ENSG00000257218 ENSG00000257218 HGNC:25068 IDH1 gene IDH1 Expert Review Amber;Literature;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria OMIM:614875;metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, MONDO:0013941;Maffucci syndrome, OMIM:614569;Maffucci syndrome, MONDO:0013808;Ollier disease/ Dyschondroplasia, OMIM:166000;Ollier disease, MONDO:0008145 24049096;22025298;22057234;22057236;33340416 False 2 67;33;0 8.110 False ENSG00000138413 ENSG00000138413 HGNC:5382 LDHD gene LDHD Expert Review Amber;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal D-lactic aciduria with susceptibility to gout, OMIM:245450;lactic aciduria due to D-lactic acid, MONDO:0009505 30931947;31638601;34258137;37021930 False 2 50;50;0 8.110 False ENSG00000166816 ENSG00000166816 HGNC:19708 LIPC gene LIPC Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hepatic lipase deficiency, 614025;[High density lipoprotein cholesterol level QTL 12] 612797;{Diabetes mellitus, noninsulin-dependent} 125853 27604308;1671786;12777476;22464213;23219720 False 2 0;0;0 8.110 False ENSG00000166035 ENSG00000166035 HGNC:6619 MRPS14 gene MRPS14 Expert list;Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 38, OMIM:618378 30358850 False 2 0;0;0 8.110 False ENSG00000120333 ENSG00000120333 HGNC:14049 MRPS16 gene MRPS16 Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2 610498 27604308;28749478;15505824 False 2 33;33;33 8.110 False ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS7 gene MRPS7 Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 25556185 False 2 50;0;50 8.110 False ENSG00000125445 ENSG00000125445 HGNC:14499 MT-RNR2 gene MT-RNR2 Expert Review Amber Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 2 50;50;0 8.110 False ENSG00000210082 ENSG00000210082 HGNC:7471 NDUFA5 gene NDUFA5 Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal mitochondrial complex I deficiency, MONDO:0100133 41859003;41916321 False 2 50;50;0 8.110 False ENSG00000128609 ENSG00000128609 HGNC:7688 NDUFB9 gene NDUFB9 Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex I deficiency, nuclear type 24 618245 22200994 False 2 100;0;0 8.110 False ENSG00000147684 ENSG00000147684 HGNC:7704 OPLAH gene OPLAH Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal 5-oxoprolinase deficiency 260005 27604308;21651516;23430506;27477828 False 2 0;0;0 8.110 False ENSG00000178814 ENSG00000178814 HGNC:8149 PAICS gene PAICS Expert Review Amber;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859 31600779;39604553;39726239 False 2 100;0;0 8.110 False ENSG00000128050 ENSG00000128050 HGNC:8587 PET117 gene PET117 Expert list;Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063 28386624 False 2 0;0;0 8.110 False ENSG00000232838 ENSG00000232838 HGNC:40045 PSPH gene PSPH Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency 614023 27604308;24816252 False 2 0;100;0 8.110 False ENSG00000146733 ENSG00000146733 HGNC:9577 RANBP2 gene RANBP2 Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acute necrotizing encephalopathy (Other metabolic disorders) 27604308 False 2 100;0;0 8.110 False ENSG00000153201 ENSG00000153201 HGNC:9848 RNASET2 gene RNASET2 Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism);Inherited white matter disorders 27604308 False 2 0;100;0 8.110 False ENSG00000026297 ENSG00000026297 HGNC:21686 RYR1 gene RYR1 Expert Review Amber Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Rhabdomyolysis and metabolic muscle disorders False 2 0;100;0 8.110 False ENSG00000196218 ENSG00000196218 HGNC:10483 SDHAF2 gene SDHAF2 Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mitochondrial Diseases;Isolated complex II deficiency;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Neuro-endocrine Tumours- PCC and PGL;Multiple endocrine tumours;Multiple Tumours 27604308 False 2 33;33;33 8.110 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHC gene SDHC Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mitochondrial Diseases;Isolated complex II deficiency;Neuro-endocrine Tumours- PCC and PGL;Multiple endocrine tumours;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Multiple Tumours 27604308 False 2 50;50;0 8.110 False ENSG00000143252 ENSG00000143252 HGNC:10682 SLC31A1 gene SLC31A1 Expert Review Amber;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092 35913762;36562171 False 2 0;100;0 8.110 False ENSG00000136868 ENSG00000136868 HGNC:11016 SSR3 gene SSR3 Expert Review Amber;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation 30945312 False 2 0;100;0 8.110 False ENSG00000114850 ENSG00000114850 HGNC:11325 STAT2 gene STAT2 Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 44 616636;elongated mitochondria;severe neurological deterioration following viral infection PMID: 26122121 False 2 75;0;25 8.110 False ENSG00000170581 ENSG00000170581 HGNC:11363 TKFC gene TKFC Expert Review Amber;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Triokinase and FMN cyclase deficiency syndrome, 618805 32004446 False 2 0;100;0 8.110 False ENSG00000149476 ENSG00000149476 HGNC:24552 TMEM65 gene TMEM65 Expert list;Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal TMEM65 related mitochondrial encephalopmyopathy 28295037 False 2 0;0;0 8.110 False ENSG00000164983 ENSG00000164983 HGNC:25203 TRAPPC11 gene TRAPPC11 Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356;autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144 23830518;26322222;29855340;30105108;26912795;27707803;27862579;28484880 False 2 0;100;0 8.110 False ENSG00000168538 ENSG00000168538 HGNC:25751 UQCC3 gene UQCC3 Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex III deficiency, nuclear type, 616111;Isolated complex III deficiency 28804536;25008109 False 2 100;0;0 8.110 False ENSG00000204922 ENSG00000204922 HGNC:34399 UQCRC1 gene UQCRC1 Expert Review Amber Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism with polyneuropathy, OMIM:619279 30788857;33141179;33779694;33248804 False 2 0;100;0 8.110 False ENSG00000010256 ENSG00000010256 HGNC:12585 UQCRQ gene UQCRQ Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, 615159 18439546;27604308 False 2 100;0;0 8.110 False ENSG00000164405 ENSG00000164405 HGNC:29594 UROC1 gene UROC1 Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism) 27604308;19304569;30619714 False 2 0;100;0 8.110 False ENSG00000159650 ENSG00000159650 HGNC:26444 YME1L1 gene YME1L1 Expert list;Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Optic atrophy 11, 617302 27495975 False 2 0;0;0 8.110 False ENSG00000136758 ENSG00000136758 HGNC:12843