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 ABCD4 gene ABCD4 Expert Review Green;Literature;NHS GMS Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857;disorder of vitamin B12 metabolism" Abnormality of vitamin metabolism;HP:0100508 22922874;31113616;30651581;28572511 False 3 100;0;0 1.7 True ENSG00000119688 ENSG00000119688 HGNC:68 AMN gene AMN Expert Review Green;Literature;NHS GMS Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Imerslund-Grasbeck syndrome 2 MIM#618882;Disorders of cobalamin absorption, transport and metabolism Abnormality of vitamin metabolism;HP:0100508 12590260;27604308 False 3 100;0;0 1.7 True ENSG00000166126 ENSG00000166126 HGNC:14604 COASY gene COASY Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal neurodegeneration with brain iron accumulation 6 MONDO:0014290;Disorders of pantothenate and CoA metabolism Abnormality of vitamin metabolism;HP:0100508 24360804, 28489334, 27021474 False 3 0;0;0 1.7 False ENSG00000068120 ENSG00000068120 HGNC:29932 CUBN gene CUBN Expert Review Green;Literature;NHS GMS Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Proteinuria, chronic benign MIM#618884;Imerslund-Grasbeck syndrome 1 MIM#261100;Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism) Abnormality of vitamin metabolism;HP:0100508 10080186;31613795 False 3 100;0;0 1.7 True ENSG00000107611 ENSG00000107611 HGNC:2548 CYP24A1 gene CYP24A1 Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Other disorders of vitamin metabolism;hypercalcemia, infantile, 1 MONDO:0020739 Abnormality of vitamin metabolism;HP:0100508 21675912, 22047572, 33516786, 33186763, 32866123, 32743688 False 3 0;0;0 1.7 False ENSG00000019186 ENSG00000019186 HGNC:2602 CYP27B1 gene CYP27B1 Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal vitamin D-dependent rickets, type 1A MONDO:0020723;Other disorders of vitamin metabolism Abnormality of vitamin metabolism;HP:0100508 9486994, 9415400, 12050193, 27473561, 34492747, 33823104 False 3 0;0;0 1.7 False ENSG00000111012 ENSG00000111012 HGNC:2606 CYP2R1 gene CYP2R1 Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal vitamin D hydroxylation-deficient rickets, type 1B MONDO:0010810;Other disorders of vitamin metabolism Abnormality of vitamin metabolism;HP:0100508 15128933, 28548312 False 3 0;0;0 1.7 False ENSG00000186104 ENSG00000186104 HGNC:20580 ETFA gene ETFA Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal multiple acyl-CoA dehydrogenase deficiency MONDO:0009282;Disorders of mitochondrial fatty acid oxidation Abnormality of vitamin metabolism;HP:0100508 1430199, 1882842, 21347544 False 3 0;0;0 1.7 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal multiple acyl-CoA dehydrogenase deficiency MONDO:0009282;Disorders of mitochondrial fatty acid oxidation Abnormality of vitamin metabolism;HP:0100508 7912128, 12815589, 27081516, 12706375, 30626930 False 3 0;0;0 1.7 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal multiple acyl-CoA dehydrogenase deficiency MONDO:0009282;Disorders of mitochondrial fatty acid oxidation Abnormality of vitamin metabolism;HP:0100508 17412732, 27038534, 19249206, 15710863, 32804429 False 3 0;0;0 1.7 False ENSG00000171503 ENSG00000171503 HGNC:3483 FLAD1 gene FLAD1 Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal myopathy with abnormal lipid metabolism MONDO:0009703;Disorders of riboflavin metabolism Abnormality of vitamin metabolism;HP:0100508 34454814,34718578, 31392824, 30982706, 30311138, 30427553, 28433476, 27259049, 25058219 False 3 0;0;0 1.7 False ENSG00000160688 ENSG00000160688 HGNC:24671 FOLR1 gene FOLR1 Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0013110;Disorders of folate metabolism Abnormality of vitamin metabolism;HP:0100508 27743887;30420205;19732866 False 3 0;0;0 1.7 False ENSG00000110195 ENSG00000110195 HGNC:3791 GGCX gene GGCX Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal vitamin K-dependent clotting factors, combined deficiency of, type 1 MONDO:0010187;Other disorders of vitamin metabolism Abnormality of vitamin metabolism;HP:0100508 32785662, 30531603, 26758921 False 3 0;0;0 1.7 False ENSG00000115486 ENSG00000115486 HGNC:4247 GIF gene GIF Expert Review Green;Literature;NHS GMS Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Intrinsic factor deficiency MIM#261000;Disorders of cobalamin absorption, transport and metabolism Abnormality of vitamin metabolism;HP:0100508 27604308;14695536;14576042 False 3 100;0;0 1.7 True ENSG00000134812 ENSG00000134812 HGNC:4268 HCFC1 gene HCFC1 Expert Review Green;Literature;NHS GMS Vitamin metabolism disorders Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females methylmalonic acidemia with homocystinuria, type cblX MONDO:0010657;disorder of cobalamin metabolism Abnormality of vitamin metabolism;HP:0100508 24011988 False 3 100;0;0 1.7 True ENSG00000172534 ENSG00000172534 HGNC:4839 HLCS gene HLCS ClinGen;Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of biotin metabolism;holocarboxylase synthetase deficiency MONDO:0009666 Abnormality of vitamin metabolism;HP:0100508 10190325 False 3 0;0;0 1.7 False ENSG00000159267 ENSG00000159267 HGNC:4976 LMBRD1 gene LMBRD1 Expert Review Green;Literature;NHS GMS Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblF type MIM#277380;Disorders of cobalamin absorption, transport and metabolism Abnormality of vitamin metabolism;HP:0100508 19136951;27604308 False 3 100;0;0 1.7 True ENSG00000168216 ENSG00000168216 HGNC:23038 LRAT gene LRAT Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 14 Abnormality of vitamin metabolism;HP:0100508 11381255 False 3 0;0;0 1.7 False ENSG00000121207 ENSG00000121207 HGNC:6685 MCEE gene MCEE Expert list;Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615 Abnormality of vitamin metabolism;HP:0100508 20301409 False 3 100;0;0 1.7 True ENSG00000124370 ENSG00000124370 HGNC:16732 MMAA gene MMAA Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of cobalamin metabolism;methylmalonic aciduria, cblA type MONDO:0009613 Abnormality of vitamin metabolism;HP:0100508 12438653;15523652 False 3 0;0;0 1.7 False ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB Expert Review Green;Literature Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic aciduria, cblB type MONDO:0009614 Abnormality of vitamin metabolism;HP:0100508 12471062;20556797;35712814;24813872 False 3 100;0;0 1.7 True ENSG00000139428 ENSG00000139428 HGNC:19331 MMACHC gene MMACHC Expert Review Green;Literature;NHS GMS Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type MIM#277400;Disorders of cobalamin absorption, transport and metabolism Abnormality of vitamin metabolism;HP:0100508 27604308;16311595 False 3 100;0;0 1.7 True ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Expert Review Green;Literature;NHS GMS Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria, cblD type, variant 1 MIM#277410;Methylmalonic aciduria and homocystinuria, cblD type MIM#277410;Methylmalonic aciduria, cblD type, variant 2 MIM#277410;Disorders of cobalamin absorption, transport and metabolism Abnormality of vitamin metabolism;HP:0100508 27604308;18385497 False 3 100;0;0 1.7 True ENSG00000168288 ENSG00000168288 HGNC:25221 MTHFD1 gene MTHFD1 Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MONDO:0060611;Disorders of folate metabolism Abnormality of vitamin metabolism;HP:0100508 32414565;19033438 False 3 0;0;0 1.7 False ENSG00000100714 ENSG00000100714 HGNC:7432 MTHFR gene MTHFR Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353;Disorders of folate metabolism Abnormality of vitamin metabolism;HP:0100508 7920641;26872964 False 3 0;0;0 1.7 False ENSG00000177000 ENSG00000177000 HGNC:7436 MTR gene MTR Expert Review Green;Literature;NHS GMS Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cblG complementation type MIM#250940;Organic aciduria Abnormality of vitamin metabolism;HP:0100508 8968735;27604308 False 3 100;0;0 1.7 True ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Expert Review Green;Literature;NHS GMS Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cbl E type MIM#236270;Disorders of the metabolism of sulphur amino acids Abnormality of vitamin metabolism;HP:0100508 27604308;9501215 False 3 100;0;0 1.7 True ENSG00000124275 ENSG00000124275 HGNC:7473 MUT gene MUT Expert list;Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612 Abnormality of vitamin metabolism;HP:0100508 20301409 False 3 100;0;0 1.7 True ENSG00000146085 ENSG00000146085 HGNC:7526 NADK2 gene NADK2 Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of niacin and NAD metabolism;2,4-dienoyl-CoA reductase deficiency, MIM# 616034 Abnormality of vitamin metabolism;HP:0100508 24847004, 27940755, 23212377, 28923496, 29388319 False 3 0;0;0 1.7 False ENSG00000152620 ENSG00000152620 HGNC:26404 NAXD gene NAXD Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of niacin and NAD metabolism;Mitochondrial disease MONDO:0044970 Abnormality of vitamin metabolism;HP:0100508 30576410 False 3 0;0;0 1.7 False ENSG00000213995 ENSG00000213995 HGNC:25576 NAXE gene NAXE Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Apolipoprotein A-I binding protein deficiency;Disorders of niacin and NAD metabolism Abnormality of vitamin metabolism;HP:0100508 27122014, 27616477, 31758406 False 3 0;0;0 1.7 False ENSG00000163382 ENSG00000163382 HGNC:18453 NMNAT1 gene NMNAT1 Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of niacin and NAD metabolism;Leber congenital amaurosis 9 MONDO:0012056 Abnormality of vitamin metabolism;HP:0100508 32533184 False 3 0;0;0 1.7 False ENSG00000173614 ENSG00000173614 HGNC:17877 NNT gene NNT Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of niacin and NAD metabolism;glucocorticoid deficiency 4 MONDO:0013874 Abnormality of vitamin metabolism;HP:0100508 26309815, 22634753 False 3 0;0;0 1.7 False ENSG00000112992 ENSG00000112992 HGNC:7863 PANK2 gene PANK2 Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal pantothenate kinase-associated neurodegeneration MONDO:0009319;Disorders of pantothenate and CoA metabolism Abnormality of vitamin metabolism;HP:0100508 25778941, 11479594, 12510040, 28863176 False 3 0;0;0 1.7 False ENSG00000125779 ENSG00000125779 HGNC:15894 PLPBP gene PLPBP Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal pyridoxine-dependent epilepsy MONDO:0009945;Disorders of pyridoxine metabolism Abnormality of vitamin metabolism;HP:0100508 30668673, 36795901 False 3 0;0;0 1.7 False ENSG00000147471 ENSG00000147471 HGNC:9457 PNPO gene PNPO Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Pyridoxal phosphate-responsive seizures MONDO:0012407;Disorders of pyridoxine metabolism Abnormality of vitamin metabolism;HP:0100508 34769443, 33981986, 33748042, 32888189 False 3 0;0;0 1.7 False ENSG00000108439 ENSG00000108439 HGNC:30260 PRDX1 gene PRDX1 Expert Review Green;Literature Vitamin metabolism disorders Metabolic disorders Other methylmalonic aciduria and homocystinuria type cblC MONDO:0010184 Abnormality of vitamin metabolism;HP:0100508 29302025;35190856 False 3 100;0;0 1.7 True Other ENSG00000117450 ENSG00000117450 HGNC:9352 RBP4 gene RBP4 Expert Review Green Vitamin metabolism disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Other disorders of vitamin metabolism;microphthalmia, isolated, with coloboma 10 MONDO:0014635 Abnormality of vitamin metabolism;HP:0100508 False 3 0;0;0 1.7 False ENSG00000138207 ENSG00000138207 HGNC:9922 RDH12 gene RDH12 Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 13 MONDO:0012990;Other disorders of vitamin metabolism Abnormality of vitamin metabolism;HP:0100508 15322982;16269441 False 3 0;0;0 1.7 False ENSG00000139988 ENSG00000139988 HGNC:19977 RDH5 gene RDH5 Expert Review Green Vitamin metabolism disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fundus albipunctatus;Other disorders of vitamin metabolism Abnormality of vitamin metabolism;HP:0100508 32232344;10369264 False 3 0;0;0 1.7 False ENSG00000135437 ENSG00000135437 HGNC:9940 RLBP1 gene RLBP1 Expert Review Green Vitamin metabolism disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Other disorders of vitamin metabolism;RLBP1-related retinopathy MONDO:0100444 Abnormality of vitamin metabolism;HP:0100508 9326942 False 3 0;0;0 1.7 False ENSG00000140522 ENSG00000140522 HGNC:10024 RPE65 gene RPE65 Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of vitamin A metabolism;RPE65-related recessive retinopathy MONDO:0100368 Abnormality of vitamin metabolism;HP:0100508 9326941 False 3 0;0;0 1.7 False ENSG00000116745 ENSG00000116745 HGNC:10294 SLC25A32 gene SLC25A32 Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Exercise intolerance, riboflavin-responsive, MONDO:0014795;Disorders of riboflavin metabolism Abnormality of vitamin metabolism;HP:0100508 26933868;28443623 False 3 0;0;0 1.7 False ENSG00000164933 ENSG00000164933 HGNC:29683 SLC2A10 gene SLC2A10 Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Arterial tortuosity syndrome MONDO:0008818;Other disorders of vitamin metabolism Abnormality of vitamin metabolism;HP:0100508 16550171, 17935213 False 3 0;0;0 1.7 False ENSG00000197496 ENSG00000197496 HGNC:13444 SLC46A1 gene SLC46A1 Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hereditary folate malabsorption MONDO:0009238;Disorders of folate metabolism Abnormality of vitamin metabolism;HP:0100508 17129779;7446347;21333572 False 3 0;0;0 1.7 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLC52A2 gene SLC52A2 Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-van Laere syndrome 2 MONDO:0013867;Disorders of riboflavin metabolism Abnormality of vitamin metabolism;HP:0100508 26973221 False 3 0;0;0 1.7 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of riboflavin metabolism;Brown-Vialetto-van Laere syndrome 1 MONDO:0024537 Abnormality of vitamin metabolism;HP:0100508 26973221 False 3 0;0;0 1.7 False ENSG00000101276 ENSG00000101276 HGNC:16187 TCN2 gene TCN2 Expert list;Expert Review Green;Literature Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency, 275350 Abnormality of vitamin metabolism;HP:0100508 19373259 False 3 100;0;0 1.7 True ENSG00000185339 ENSG00000185339 HGNC:11653 UBIAD1 gene UBIAD1 Expert Review Green Vitamin metabolism disorders Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schnyder corneal dystrophy MONDO:0007374 MIM#611632;Other disorders of vitamin metabolism Abnormality of vitamin metabolism;HP:0100508 18176953, 23169578, 31323021, 30785396, 30223810 False 3 0;0;0 1.7 False ENSG00000120942 ENSG00000120942 HGNC:30791 VDR gene VDR Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal vitamin D-dependent rickets, type 2A MONDO:0010186, Other disorders of vitamin metabolism Abnormality of vitamin metabolism;HP:0100508 2849209, 9005998, 17970811 False 3 0;0;0 1.7 False ENSG00000111424 ENSG00000111424 HGNC:12679 VKORC1 gene VKORC1 Expert Review Green Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal vitamin K-dependent clotting factors, combined deficiency of, type 2 MONDO:0011837;Other disorders of vitamin metabolism Abnormality of vitamin metabolism;HP:0100508 14765194 False 3 0;0;0 1.7 False ENSG00000167397 ENSG00000167397 HGNC:23663 CD320 gene CD320 Expert Review Amber Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic acidemia due to transcobalamin receptor defect MONDO:0013341 Abnormality of vitamin metabolism;HP:0100508 27604308;29663633;30303736 False 2 0;0;0 1.7 False ENSG00000167775 ENSG00000167775 HGNC:16692 STRA6 gene STRA6 Expert Review Amber Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Matthew-Wood syndrome MONDO:0011010;Other disorders of vitamin metabolism Abnormality of vitamin metabolism;HP:0100508 21901792, 18316031, 24852372 False 2 0;0;0 1.7 False ENSG00000137868 ENSG00000137868 HGNC:30650 TCN1 gene TCN1 Expert Review Amber;Literature Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal transcobalamin I deficiency MONDO:0008659 Abnormality of vitamin metabolism;HP:0100508 19686235 False 2 0;100;0 1.7 True ENSG00000134827 ENSG00000134827 HGNC:11652 ZNF143 gene ZNF143 Expert Review;Expert Review Amber;Expert Review Red;Literature Vitamin metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic aciduria and homocystinuria MONDO:0016826 Abnormality of vitamin metabolism;HP:0100508 27349184;33845046;9009278;22268977;27349184;27349184 False 2 0;50;50 1.7 True ENSG00000166478 ENSG00000166478 HGNC:12928