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 ALG1 gene ALG1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type Ik 608540" 26931382 False 3 100;0;0 1.58 True ENSG00000033011 ENSG00000033011 HGNC:18294 ALG11 gene ALG11 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type Ip, MIM# 613661" 30676690 False 3 100;0;0 1.58 True ENSG00000253710 ENSG00000253710 HGNC:32456 ALG12 gene ALG12 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type Ig 607143" 31481313 False 3 100;0;0 1.58 True ENSG00000182858 ENSG00000182858 HGNC:19358 ALG13 gene ALG13 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital disorder of glycosylation, type Is (MIM# 300884) 22492991;28887793;26138355;31444733;23033978;23934111;24781210;24896178;25732998;26138355;26482601;28940310;32238909 False 3 67;33;0 1.58 True ENSG00000101901 ENSG00000101901 HGNC:30881 ALG14 gene ALG14 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 15, without tubular aggregates 616227;Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031;Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036;Disorder of N-glycosylation 30221345;23404334;28733338 False 3 100;0;0 1.58 True ENSG00000172339 ENSG00000172339 HGNC:28287 ALG3 gene ALG3 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id, MIM# 601110 31067009 False 3 100;0;0 1.58 True ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic (MIM#603147) 10914684;27498540 False 3 100;0;0 1.58 True ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ih, MIM# 608104 26066342 False 3 100;0;0 1.58 True ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Il, MIM#608776;Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210 28932688;25966638;26453364 False 3 100;0;0 1.58 True ENSG00000086848 ENSG00000086848 HGNC:15672 ATP6AP1 gene ATP6AP1 Expert Review Green;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "immunodeficiency-47 (MIM# 300972)" PMID: 27231034 False 3 100;0;0 1.58 True ENSG00000071553 ENSG00000071553 HGNC:868 ATP6AP2 gene ATP6AP2 Expert list;Expert Review Green Congenital Disorders of Glycosylation Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital disorder of glycosylation, type IIr, MIM# 301045 29127204;29388887 False 3 100;0;0 1.58 True ENSG00000182220 ENSG00000182220 HGNC:18305 ATP6V0A2 gene ATP6V0A2 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIA, MIM# 219200;Wrinkly skin syndrome, MIM#278250 29952037;22773132 False 3 100;0;0 1.58 True ENSG00000185344 ENSG00000185344 HGNC:18481 B3GALNT2 gene B3GALNT2 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181;MONDO:0014071 23453667;33290285;29791932;29273094;28688748;28303321 False 3 100;0;0 1.58 True ENSG00000162885 ENSG00000162885 HGNC:28596 B3GALT6 gene B3GALT6 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Al-Gazali syndrome, MIM# 609465;Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075 25149931;29443383;23664117;29931299;23664117;23664118;31614862 False 3 100;0;0 1.58 True ENSG00000176022 ENSG00000176022 HGNC:17978 B3GAT3 gene B3GAT3 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600 26754439;31988067;26086840;25893793;21763480;24668659 False 3 100;0;0 1.58 True ENSG00000149541 ENSG00000149541 HGNC:923 B3GLCT gene B3GLCT Expert Review Green;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome (MIM# 261540) 18199743;16909395 False 3 100;0;0 1.58 True ENSG00000187676 ENSG00000187676 HGNC:20207 B4GALNT1 gene B4GALNT1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive (MIM #609195) 23746551;24103911 False 3 100;0;0 1.58 True ENSG00000135454 ENSG00000135454 HGNC:4117 B4GALT1 gene B4GALT1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders Unknown False 3 100;0;0 1.58 True ENSG00000086062 ENSG00000086062 HGNC:924 B4GALT7 gene B4GALT7 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 23956117;24755949;31278392;31614862;31862401 False 3 100;0;0 1.58 True ENSG00000027847 ENSG00000027847 HGNC:930 CCDC115 gene CCDC115 Expert Review Green;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type IIo (MIM# 616828)" 26833332 False 3 100;0;0 1.58 True ENSG00000136710 ENSG00000136710 HGNC:28178 CHST14 gene CHST14 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776 26373698 False 3 100;0;0 1.58 True ENSG00000169105 ENSG00000169105 HGNC:24464 CHST3 gene CHST3 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095 18513679 False 3 100;0;0 1.58 True ENSG00000122863 ENSG00000122863 HGNC:1971 CHST6 gene CHST6 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Macular corneal dystrophy, MIM# 217800, MONDO:0009020 11818380;16207214;26604660 False 3 100;0;0 1.58 True ENSG00000183196 ENSG00000183196 HGNC:6938 CHSY1 gene CHSY1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533;CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 21129728;21129727;24269551 False 3 100;0;0 1.58 True ENSG00000131873 ENSG00000131873 HGNC:17198 COG1 gene COG1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIg, MIM# 611209 16537452;19008299;17904886;11980916 False 3 100;0;0 1.58 True ENSG00000166685 ENSG00000166685 HGNC:6545 COG4 gene COG4 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIj 613489 21185756;19494034 False 3 100;0;0 1.58 True ENSG00000103051 ENSG00000103051 HGNC:18620 COG5 gene COG5 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIi, MIM# 613612 23228021;31572517;32174980 False 3 100;0;0 1.58 True ENSG00000164597 ENSG00000164597 HGNC:14857 COG6 gene COG6 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIl, MIM# 614576 20605848;23430903;26260076;32905044;32683677;31420886 False 3 100;0;0 1.58 True ENSG00000133103 ENSG00000133103 HGNC:18621 COG7 gene COG7 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIe , MIM#608779 15107842;17356545;28883096 False 3 100;0;0 1.58 True ENSG00000168434 ENSG00000168434 HGNC:18622 COG8 gene COG8 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIh, MIM# 611182 17220172;28619360;30690882;17331980 False 3 100;0;0 1.58 True ENSG00000213380 ENSG00000213380 HGNC:18623 CSGALNACT1 gene CSGALNACT1 Expert Review Green;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation;Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870 31705726;31325655 False 3 100;0;0 1.58 True ENSG00000147408 ENSG00000147408 HGNC:24290 DHDDS gene DHDDS Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1bb, MIM# 613861 27343064;21295283;28130426;29276052;32483926;36046393;24078709;28005406;36046393 False 3 100;0;0 1.58 True ENSG00000117682 ENSG00000117682 HGNC:20603 DHRSX gene DHRSX Expert Review Green;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type 1DD, MIM# 301133" 38821050 False 3 100;0;0 1.58 True ENSG00000169084 ENSG00000169084 HGNC:18399 DOLK gene DOLK Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal DK1-CDG, MONDO:0012556;Congenital disorder of glycosylation, type Im, MIM# 610768 17273964;22242004;23890587;30653653;28816422;24144945 False 3 100;0;0 1.58 True ENSG00000175283 ENSG00000175283 HGNC:23406 DPAGT1 gene DPAGT1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ij, MIM# 608093;DPAGT1-CDG MONDO:0011964 12872255;22492991;22304930;31153949;30653653;30117111 False 3 100;0;0 1.58 True ENSG00000172269 ENSG00000172269 HGNC:2995 DPM1 gene DPM1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, MIM# 608799 23856421;16641202;10642602;10642597 False 3 100;0;0 1.58 True ENSG00000000419 ENSG00000000419 HGNC:3005 DPM2 gene DPM2 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, MIM#615042 23109149;33129689 False 3 100;0;0 1.58 True ENSG00000136908 ENSG00000136908 HGNC:3006 DPM3 gene DPM3 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992 31266720;28803818;19576565;31266720;31469168 False 3 100;0;0 1.58 True ENSG00000179085 ENSG00000179085 HGNC:3007 EDEM3 gene EDEM3 Expert Review Green;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 2V, MIM# 619493 34143952 False 3 100;0;0 1.58 True ENSG00000116406 ENSG00000116406 HGNC:16787 EOGT gene EOGT Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 4 (MIM #615297);scalp aplasia cutis congenita;transverse terminal limb defects False 3 100;0;0 1.58 True ENSG00000163378 ENSG00000163378 HGNC:28526 EXT1 gene EXT1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exostoses, multiple, type 1 133700;Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) 7550340;9521425 False 3 100;0;0 1.58 True ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Seizures, scoliosis, and macrocephaly syndrome 616682;Exostoses, multiple, type 2 133701;Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) 30288735;30075207;26246518 False 3 100;0;0 1.58 True ENSG00000151348 ENSG00000151348 HGNC:3513 EXTL3 gene EXTL3 Expert Review;Expert Review Green Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425 28132690;28148688;28331220 False 3 100;0;0 1.58 True ENSG00000012232 ENSG00000012232 HGNC:3518 FKRP gene FKRP Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153;Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 False 3 100;0;0 1.58 True ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588 False 3 100;0;0 1.58 True ENSG00000106692 ENSG00000106692 HGNC:3622 FUK gene FUK Expert Review Green;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324" 30503518;35718084;36426412 False 3 100;0;0 1.58 True ENSG00000157353 ENSG00000157353 HGNC:29500 FUT8 gene FUT8 Expert list;Expert Review Green Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation, 618005 29304374 False 3 100;0;0 1.58 True ENSG00000033170 ENSG00000033170 HGNC:4019 G6PC3 gene G6PC3 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dursun syndrome 612541;Neutropenia, severe congenital 4, autosomal recessive 612541 21385794 False 3 0;100;0 1.58 True ENSG00000141349 ENSG00000141349 HGNC:24861 GALNT2 gene GALNT2 Expert Review Green;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIt, MIM# 618885 32293671 False 3 100;0;0 1.58 True ENSG00000143641 ENSG00000143641 HGNC:4124 GALNT3 gene GALNT3 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900 15133511;20358599;32125652 False 3 100;0;0 1.58 True ENSG00000115339 ENSG00000115339 HGNC:4125 GFPT1 gene GFPT1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates, 610542;Limb-girdle congenital myasthenic syndrome;Leukoencephalopathy 21310273;30635494 False 3 100;0;0 1.58 True ENSG00000198380 ENSG00000198380 HGNC:4241 GMPPA gene GMPPA Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) 24035193;28574218 False 3 100;0;0 1.58 True ENSG00000144591 ENSG00000144591 HGNC:22923 GMPPB gene GMPPB Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350);Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351);Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352) False 3 100;0;0 1.58 True ENSG00000173540 ENSG00000173540 HGNC:22932 GNE gene GNE Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy 605820;Sialuria MIM#269921;ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 12177386;12473753;32053088;29923088;10356312;11326336;11486897;27142465 False 3 100;0;0 1.58 True ENSG00000159921 ENSG00000159921 HGNC:23657 GORAB gene GORAB Expert Review Green;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum MIM#231070 PMID: 18348262;28807865;30631079. False 3 100;0;0 1.58 True ENSG00000120370 ENSG00000120370 HGNC:25676 GPAA1 gene GPAA1 Expert Review;Expert Review Green Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810" 29100095 False 3 100;0;0 1.58 True ENSG00000197858 ENSG00000197858 HGNC:4446 ISPD gene ISPD Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052 False 3 100;0;0 1.58 True ENSG00000214960 ENSG00000214960 HGNC:37276 LARGE1 gene LARGE1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 False 3 100;0;0 1.58 True ENSG00000133424 ENSG00000133424 HGNC:6511 LFNG gene LFNG Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813 9690472;16385447;30531807;9690473 False 3 100;0;0 1.58 True ENSG00000106003 ENSG00000106003 HGNC:6560 MAGT1 gene MAGT1 Expert Review Green;Literature Congenital Disorders of Glycosylation Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Congenital disorder of glycosylation, type Icc (MIM# 301031);Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)" 31036665;31714901 False 3 100;0;0 1.58 True ENSG00000102158 ENSG00000102158 HGNC:28880 MAN1B1 gene MAN1B1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 15, MIM#614202 False 3 100;0;0 1.58 True ENSG00000177239 ENSG00000177239 HGNC:6823 MGAT2 gene MGAT2 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIa, MIM# 212066;MGAT2-CDG, MONDO:0008908 8808595;11228641;22105986;33044030;31420886 False 3 100;0;0 1.58 True ENSG00000168282 ENSG00000168282 HGNC:7045 MOGS gene MOGS Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb, MIM# 606056 31925597;30587846;33058492 False 3 100;0;0 1.58 True ENSG00000115275 ENSG00000115275 HGNC:24862 MPDU1 gene MPDU1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, MIM# 609180;MPDU1-CDG, MONDO:0012211 11733564;11733556;31741824;29721919 False 3 100;0;0 1.58 True ENSG00000129255 ENSG00000129255 HGNC:7207 MPI gene MPI Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, MIM# 602579;MPI-CDG MONDO:0011257 12414827;9585601;10980531;33098580;33204592;32905087;32266963;30242110 False 3 100;0;0 1.58 True ENSG00000178802 ENSG00000178802 HGNC:7216 NGLY1 gene NGLY1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation, MIM# 615273;alacrima, movement disorder, microcephaly, abnormal LFTs 24651605;27388694;32259258;29550355 False 3 100;0;0 1.58 True ENSG00000151092 ENSG00000151092 HGNC:17646 OGT gene OGT Expert Review;Expert Review Green Congenital Disorders of Glycosylation Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Mental retardation, X-linked 106, MIM# 300997" 28302723;28584052;31296563;31627256;29769320;29606577 False 3 100;0;0 1.58 True ENSG00000147162 ENSG00000147162 HGNC:8127 PGAP2 gene PGAP2 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628 23561846;23561847;31805394;29119105;27871432 False 3 100;0;0 1.58 True ENSG00000148985 ENSG00000148985 HGNC:17893 PGAP3 gene PGAP3 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318 24439110;29620724;30345601;30217754 False 3 100;0;0 1.58 True ENSG00000161395 ENSG00000161395 HGNC:23719 PGM1 gene PGM1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type It 614921 24499211 False 3 100;0;0 1.58 True ENSG00000079739 ENSG00000079739 HGNC:8905 PGM3 gene PGM3 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23, MIM# 615816;PGM3-CDG, MONDO:0014353 30578875;31231132;33098103;30157810;28704707 False 3 100;0;0 1.58 True ENSG00000013375 ENSG00000013375 HGNC:8907 PIGA gene PIGA Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 22305531;24357517;24706016;26545172;33333793;32694024 False 3 100;0;0 1.58 True ENSG00000165195 ENSG00000165195 HGNC:8957 PIGB gene PIGB Expert list;Expert Review Green Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Developmental and epileptic encephalopathy 80 618580" 31256876 False 3 100;0;0 1.58 True ENSG00000069943 ENSG00000069943 HGNC:8959 PIGH gene PIGH Expert list;Expert Review Green Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010 33156547;29573052;29603516 False 3 100;0;0 1.58 True ENSG00000100564 ENSG00000100564 HGNC:8964 PIGK gene PIGK Expert list;Expert Review Green Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879" 32220290 False 3 100;0;0 1.58 True ENSG00000142892 ENSG00000142892 HGNC:8965 PIGL gene PIGL Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal CHIME syndrome, MIM# 280000, MONDO:0010221 22444671;31535386;30023290;29473937;28371479;25706356 False 3 100;0;0 1.58 True ENSG00000108474 ENSG00000108474 HGNC:8966 PIGN gene PIGN Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563 21493957;24253414;26364997;26394714;33193741;32585529;29330547 False 3 100;0;0 1.58 True ENSG00000197563 ENSG00000197563 HGNC:8967 PIGO gene PIGO Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882 22683086;31698102;28900819;28545593;28337824 False 3 100;0;0 1.58 True ENSG00000165282 ENSG00000165282 HGNC:23215 PIGP gene PIGP Expert list;Expert Review Green Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Developmental and epileptic encephalopathy 55, MIM# 617599" 31139695;32042915;28334793 False 3 100;0;0 1.58 True ENSG00000185808 ENSG00000185808 HGNC:3046 PIGS gene PIGS Expert Review;Expert Review Green Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Glycosylphosphatidylinositol biosynthesis defect 18 618143" 30269814, False 3 100;0;0 1.58 True ENSG00000087111 ENSG00000087111 HGNC:14937 PIGT gene PIGT Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165" 30976099;25943031;24906948;24906948;24906948;28728837;28728837;28728837 False 3 100;0;0 1.58 True ENSG00000124155 ENSG00000124155 HGNC:14938 PIGU gene PIGU Expert list;Expert Review Green Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590 31353022 False 3 100;0;0 1.58 True ENSG00000101464 ENSG00000101464 HGNC:15791 PIGV gene PIGV Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398 20802478;22315194;28817240;24129430 False 3 100;0;0 1.58 True ENSG00000060642 ENSG00000060642 HGNC:26031 PIGW gene PIGW Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025;intractable seizures;West syndrome;severe developmental delay;dysmorphic facial features;hyperphosphatasia;epilepsy;recurrent respiratory infections;hypotonia;stereotypies" 24367057;27626616;30813920;32198969 False 3 100;0;0 1.58 True ENSG00000184886 ENSG00000277161 HGNC:23213 PMM2 gene PMM2 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 21541725 False 3 100;0;0 1.58 True ENSG00000140650 ENSG00000140650 HGNC:9115 POMGNT1 gene POMGNT1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, 253280;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, 613151;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157 False 3 100;0;0 1.58 True ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830;Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 618135 False 3 100;0;0 1.58 True ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 1.58 True ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 613155 False 3 100;0;0 1.58 True ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158 False 3 100;0;0 1.58 True ENSG00000009830 ENSG00000009830 HGNC:19743 RFT1 gene RFT1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In, MIM# 612015;RFT1-CDG, MONDO:0012783 18313027;19701946;19856127;23111317;30071302;29923091;27927990;26892341 False 3 100;0;0 1.58 True ENSG00000163933 ENSG00000163933 HGNC:30220 SEC23B gene SEC23B Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type II 224100;COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) 19561605;19621418 False 3 100;0;0 1.58 True ENSG00000101310 ENSG00000101310 HGNC:10702 SLC10A7 gene SLC10A7 Expert list;Expert Review Green Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363 30082715;29878199;31191616 False 3 100;0;0 1.58 True ENSG00000120519 ENSG00000120519 HGNC:23088 SLC35A1 gene SLC35A1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIf, MIM# 603585 28856833;23873973;11157507 False 3 100;0;0 1.58 True ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A2 gene SLC35A2 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders 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 IIm (MIM #300896) 23561849;24115232;27743886;25778940;30817854 False 3 100;0;0 1.58 True ENSG00000102100 ENSG00000102100 HGNC:11022 SLC35A3 gene SLC35A3 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, mental retardation, and seizures OMIM #615553;Skeletal dysplasia;Congenital disorder of glycosylation 28328131;24031089;28777481 False 3 100;0;0 1.58 True ENSG00000117620 ENSG00000117620 HGNC:11023 SLC35C1 gene SLC35C1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 11326279;12116250;33098347;32313197;24403049 False 3 100;0;0 1.58 True ENSG00000181830 ENSG00000181830 HGNC:20197 SLC35D1 gene SLC35D1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Schneckenbecken dysplasia 269250, MONDO:0010013;O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) 17952091;19508970;31423530 False 3 100;0;0 1.58 True ENSG00000116704 ENSG00000116704 HGNC:20800 SLC37A4 gene SLC37A4 Expert Review Green;Literature Congenital Disorders of Glycosylation Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital disorder of glycosylation, type IIw, MIM# 619525 32884905;33728255 False 3 50;25;25 1.58 True ENSG00000137700 ENSG00000137700 HGNC:4061 SLC39A8 gene SLC39A8 Expert Review;Expert Review Green Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn , MIM#16721 26637978;26637979 False 3 100;0;0 1.58 True ENSG00000138821 ENSG00000138821 HGNC:20862 SRD5A3 gene SRD5A3 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iq, MIM# 612379;Kahrizi syndrome, MIM# 612713 32424323 False 3 100;0;0 1.58 True ENSG00000128039 ENSG00000128039 HGNC:25812 SSR4 gene SSR4 Expert list;Expert Review Green Congenital Disorders of Glycosylation Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital disorder of glycosylation, type Iy, MIM#300934 False 3 100;0;0 1.58 True ENSG00000180879 ENSG00000180879 HGNC:11326 ST3GAL3 gene ST3GAL3 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability, autosomal recessive 12 MIM# 611090 23252400;21907012;31584066 False 3 50;50;0 1.58 True ENSG00000126091 ENSG00000126091 HGNC:10866 ST3GAL5 gene ST3GAL5 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Salt and pepper developmental regression syndrome 609056;GM3 synthase deficiency, MONDO:0018274;Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 23436467;22990144;15502825;27232954;30691927;30688114;30576498 False 3 100;0;0 1.58 True ENSG00000115525 ENSG00000115525 HGNC:10872 STT3A gene STT3A Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iw, AR, OMIM #615596;Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714 23842455;30701557;28424003;34653363 False 3 100;0;0 1.58 True ENSG00000134910 ENSG00000134910 HGNC:6172 TMEM165 gene TMEM165 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk, MIM# 614727;TMEM165-CDG, MONDO:0013870 22683087;28323990;27401145;27008884;26238249;25609749 False 3 100;0;0 1.58 True ENSG00000134851 ENSG00000134851 HGNC:30760 TMEM199 gene TMEM199 Expert Review Green;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type IIp MIM# 616829" 26833330;29321044 False 3 100;0;0 1.58 True ENSG00000244045 ENSG00000244045 HGNC:18085 TMEM5 gene TMEM5 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041, MONDO:0014022 23217329;23519211;30017359;27733679;27212206 False 3 100;0;0 1.58 True ENSG00000118600 ENSG00000118600 HGNC:13530 TRAPPC9 gene TRAPPC9 Expert Review Green;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Intellectual developmental disorder, autosomal recessive 13 MIM#613192" PMID: 35042660 False 3 50;50;0 1.58 True ENSG00000167632 ENSG00000167632 HGNC:30832 TUSC3 gene TUSC3 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615;TUSC3-CDG (Disorders of protein N-glycosylation) 18452889;18455129;21739581;27148795;31606977 False 3 100;0;0 1.58 True ENSG00000104723 ENSG00000104723 HGNC:30242 VMA21 gene VMA21 Expert list;Expert Review Green Congenital Disorders of Glycosylation Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Myopathy, X-linked, with excessive autophagy (MIM#310440) 27916343;25809233;23315026 False 3 100;0;0 1.58 True ENSG00000160131 ENSG00000160131 HGNC:22082 XYLT1 gene XYLT1 Expert Review Green;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 2, MIM# 615777;Baratela-Scott syndrome 30554721;24581741;23982343 False 3 100;0;0 1.58 True ENSG00000103489 ENSG00000103489 HGNC:15516 XYLT2 gene XYLT2 Expert Review Green;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spondyloocular syndrome MIM# 605822 26027496;26987875;30891060;28484880 False 3 100;0;0 1.58 True ENSG00000015532 ENSG00000015532 HGNC:15517 COG3 gene COG3 Expert Review Amber;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, MIM# 620546 37711075 False 2 0;100;0 1.58 True ENSG00000136152 ENSG00000136152 HGNC:18619 DDOST gene DDOST Expert Review Amber;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ir, MIM# 614507 22305527 False 2 50;50;0 1.58 True ENSG00000244038 ENSG00000244038 HGNC:2728 MAN2B2 gene MAN2B2 Expert Review Amber;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related 38622837;35637269;31775018 False 2 0;100;0 1.58 True ENSG00000013288 ENSG00000013288 HGNC:29623 NUS1 gene NUS1 Expert Review Amber;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1aa, MIM#610463 25066056 False 2 0;100;0 1.58 True ENSG00000153989 ENSG00000153989 HGNC:21042 PIGM gene PIGM Expert Review Amber;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol deficiency, MIM# 610293;portal vein thrombosis;persistent absence seizures;macrocephaly;infantile-onset cerebrovascular thrombotic events;portal vein thrombosis;persistent absence seizures;macrocephaly;infantile-onset cerebrovascular thrombotic events 31445883;16767100 False 2 0;100;0 1.58 True ENSG00000143315 ENSG00000143315 HGNC:18858 POFUT1 gene POFUT1 Expert Review Amber;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dowling-Degos disease 2 (MIM# 615327) 23684010;29452367;25157627 False 2 0;100;0 1.58 True ENSG00000101346 ENSG00000101346 HGNC:14988 SLC26A2 gene SLC26A2 Expert Review Amber;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Skeletal dysplasia (various) 11241838 False 2 0;100;0 1.58 True ENSG00000155850 ENSG00000155850 HGNC:10994 SLC9A7 gene SLC9A7 Expert list;Expert Review Amber Congenital Disorders of Glycosylation Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 108, OMIM #301024 30335141 False 2 0;100;0 1.58 True ENSG00000065923 ENSG00000065923 HGNC:17123 SSR3 gene SSR3 Expert Review Amber;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation 30945312 False 2 0;100;0 1.58 True ENSG00000114850 ENSG00000114850 HGNC:11325 STX5 gene STX5 Expert Review Amber;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal congenital disorder of glycosylation MONDO#0015286, STX5-related 34711829 False 2 0;100;0 1.58 True ENSG00000162236 ENSG00000162236 HGNC:11440 TRAPPC11 gene TRAPPC11 Expert Review Amber;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356 23830518;26322222;29855340;30105108;26912795;27707803;27862579;28484880 False 2 50;50;0 1.58 True ENSG00000168538 ENSG00000168538 HGNC:25751 ALG10 gene ALG10 Expert Review Red;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, ALG10-related 33798445 False 1 0;0;100 1.58 True ENSG00000139133 ENSG00000139133 HGNC:23162 ALG2 gene ALG2 Expert Review Red;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ii (MIM# 607906) 12684507;23404334;24461433 False 1 0;0;100 1.58 True ENSG00000119523 ENSG00000119523 HGNC:23159 CAMLG gene CAMLG Expert Review Red;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type IIz, OMIM #: 620201 PMID: 35262690 False 1 0;0;100 1.58 True ENSG00000164615 ENSG00000164615 HGNC:1471 CHST8 gene CHST8 Expert Review Red;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peeling Skin Syndrome 22289416;28204496 False 1 0;0;100 1.58 True ENSG00000124302 ENSG00000124302 HGNC:15993 COG2 gene COG2 Expert Review Red;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIq (MIM# 617395) 24784932 False 1 0;0;100 1.58 True ENSG00000135775 ENSG00000135775 HGNC:6546 DSE gene DSE Expert Review Red;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539) 23704329 False 1 0;0;100 1.58 True ENSG00000111817 ENSG00000111817 HGNC:21144 GET4 gene GET4 Expert Review Red;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation,, type IIy MIM#620200 32395830 False 1 0;0;100 1.58 True ENSG00000239857 ENSG00000239857 HGNC:21690 MAN2A2 gene MAN2A2 Expert Review Red;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated 36357165 False 1 0;0;100 1.58 True ENSG00000196547 ENSG00000196547 HGNC:6825 OSTC gene OSTC Expert Review Red;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Oligosaccharyltransferase complex-congenital disorders of glycosylation PMID: 32267060 False 1 0;0;100 1.58 True ENSG00000198856 ENSG00000198856 HGNC:24448 PAPSS2 gene PAPSS2 Expert Review Red;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847 22791835;25594860;31461705;23633440;9771708;19474428 False 1 0;0;100 1.58 True ENSG00000198682 ENSG00000198682 HGNC:8604 PIGF gene PIGF Expert Review Red;Literature Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356 33386993 False 1 0;0;100 1.58 True ENSG00000151665 ENSG00000151665 HGNC:8962 POGLUT1 gene POGLUT1 Expert Review Red;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696) 27807076;24387993 False 1 0;100;0 1.58 True ENSG00000163389 ENSG00000163389 HGNC:22954 SEC23A gene SEC23A Expert Review Red;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Craniolenticulosutural dysplasia (MIM# 607812) 16980979;21039434;16980978;27148587 False 1 0;0;100 1.58 True ENSG00000100934 ENSG00000100934 HGNC:10701 STT3B gene STT3B Expert Review Red;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ix 615597 23842455 False 1 0;0;100 1.58 True ENSG00000163527 ENSG00000163527 HGNC:30611 TRIP11 gene TRIP11 Expert Review Red;Victorian Clinical Genetics Services Congenital Disorders of Glycosylation Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 29872333;20089971;30728324;30518689 False 1 0;50;50 1.58 True ENSG00000100815 ENSG00000100815 HGNC:12305