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 Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ik 608540;Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation) 22966035;14973782;26931382 False 3 100;0;0 7.16 False ENSG00000033011 ENSG00000033011 HGNC:18294 ALG11 gene ALG11 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ip 613661; ALG11-CDG (Disorders of protein N-glycosylation) 27604308;22213132 False 3 100;0;0 7.16 False ENSG00000253710 ENSG00000253710 HGNC:32456 ALG12 gene ALG12 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig 607143; Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) 27604308;17506107;11983712 False 3 100;0;0 7.16 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG14 gene ALG14 Expert Review Green;Literature Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Congenital myasthenic sydrome (Disorders of protein N-glycosylation) 27604308;23404334;30221345;28733338 False 3 100;0;0 7.16 False ENSG00000172339 ENSG00000172339 HGNC:28287 ALG3 gene ALG3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id 601110;Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation) 15108280;19862844 False 3 100;0;0 7.16 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic 603147; Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation) 10914684 False 3 100;0;0 7.16 False ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ih 608104; Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation) 12480927;15235028 False 3 100;0;0 7.16 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal ALG9-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Il 608776;Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation) 27604308;15148656;25966638 False 3 100;0;0 7.16 False ENSG00000086848 ENSG00000086848 HGNC:15672 ATP6AP1 gene ATP6AP1 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females "Immunodeficiency 47 300972" 27231034 False 3 100;0;0 7.16 False ENSG00000071553 ENSG00000071553 HGNC:868 ATP6V0A2 gene ATP6V0A2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIA 21920; Wrinkly skin syndrome 278250; V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) 20301755 False 3 100;0;0 7.16 False ENSG00000185344 ENSG00000185344 HGNC:18481 B3GALNT2 gene B3GALNT2 Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181" 23453667 False 3 100;0;0 7.16 False ENSG00000162885 ENSG00000162885 HGNC:28596 B3GALT6 gene B3GALT6 Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal "Ehlers-Danlos syndrome, progeroid type, 2 615349;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640" 23664117;23664118 False 3 100;0;0 7.16 False ENSG00000176022 ENSG00000176022 HGNC:17978 B3GAT3 gene B3GAT3 Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600; B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 21763480;27871226;26086840 False 3 100;0;0 7.16 False ENSG00000149541 ENSG00000149541 HGNC:923 B3GLCT gene B3GLCT Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome 261540; O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 16909395;23889335 False 3 100;0;0 7.16 False ENSG00000187676 ENSG00000187676 HGNC:20207 B4GALNT1 gene B4GALNT1 Expert list;Expert Review Green;NHS GMS Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive, OMIM:609195;Hereditary spastic paraplegia 26, MONDO:0012213 23746551;24103911 False 3 100;0;0 7.16 False ENSG00000135454 ENSG00000135454 HGNC:4117 B4GALT1 gene B4GALT1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IId, OMIM:607091 21920538;11901181 False 3 100;0;0 7.16 False ENSG00000086062 ENSG00000086062 HGNC:924 B4GALT7 gene B4GALT7 Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome with short stature and limb anomalies 130070; B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) 27827381 False 3 100;0;0 7.16 False ENSG00000027847 ENSG00000027847 HGNC:930 CCDC115 gene CCDC115 Expert Review Green;Other Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIo 616828 26833332 False 3 100;0;0 7.16 False ENSG00000136710 ENSG00000136710 HGNC:28178 CHST14 gene CHST14 Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1 601776; CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 26646600 False 3 100;0;0 7.16 False ENSG00000169105 ENSG00000169105 HGNC:24464 CHST3 gene CHST3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia with congenital joint dislocations 143095; CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 20830804 False 3 100;0;0 7.16 False ENSG00000122863 ENSG00000122863 HGNC:1971 CHST6 gene CHST6 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Macular corneal dystrophy 217800; CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 16568029 False 3 100;0;0 7.16 False ENSG00000183196 ENSG00000183196 HGNC:6938 CHSY1 gene CHSY1 Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome 605282; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 24269551;21129727 False 3 100;0;0 7.16 False ENSG00000131873 ENSG00000131873 HGNC:17198 COG1 gene COG1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIg 611209; Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) False 3 100;0;0 7.16 False ENSG00000166685 ENSG00000166685 HGNC:6545 COG4 gene COG4 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIj 613489; Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) 11980916;19494034;19651599;21185756 False 3 100;0;0 7.16 False ENSG00000103051 ENSG00000103051 HGNC:18620 COG5 gene COG5 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIi 613612; Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) 11980916;19690088;23228021;23430875;28960046 False 3 100;0;0 7.16 False ENSG00000164597 ENSG00000164597 HGNC:14857 COG6 gene COG6 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIl 614576; Shaheen syndrome 615328; Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) 11980916;26260076 False 3 100;0;0 7.16 False ENSG00000133103 ENSG00000133103 HGNC:18621 COG7 gene COG7 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIe 608779; Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) 11980916;15107842 False 3 100;0;0 7.16 False ENSG00000168434 ENSG00000168434 HGNC:18622 COG8 gene COG8 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIh 611182; Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) 11980916;17331980;17220172 False 3 100;0;0 7.16 False ENSG00000213380 ENSG00000213380 HGNC:18623 CSGALNACT1 gene CSGALNACT1 Expert list;Expert Review Green Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation;Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870;skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029 31705726;31325655;31705726 False 3 100;0;0 7.16 False ENSG00000147408 ENSG00000147408 HGNC:24290 DDOST gene DDOST Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ir, OMIM:614507 22305527;34462534 False 3 67;0;33 7.16 False ENSG00000244038 ENSG00000244038 HGNC:2728 DHRSX gene DHRSX Expert Review Green;NHS GMS Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1DD, OMIM:301133 38821050 False 3 50;0;50 7.16 False ENSG00000169084 ENSG00000169084 HGNC:18399 DOLK gene DOLK Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Im 610768; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 22242004;24144945 False 3 100;0;0 7.16 False ENSG00000175283 ENSG00000175283 HGNC:23406 DPAGT1 gene DPAGT1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ij 608093; Myasthenic syndrome, congenital, 13, with tubular aggregates 614750; UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation) 12872255;22304930;30653653 False 3 100;0;0 7.16 False ENSG00000172269 ENSG00000172269 HGNC:2995 DPM1 gene DPM1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, OMIM:608799;GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 23856421 False 3 100;0;0 7.16 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM2 gene DPM2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, OMIM:615042 23109149;26453362;33129689 False 3 100;0;0 7.16 False ENSG00000136908 ENSG00000136908 HGNC:3006 DPM3 gene DPM3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937 19576565;28803818 False 3 0;0;100 7.16 False ENSG00000179085 ENSG00000179085 HGNC:3007 EDEM3 gene EDEM3 Expert Review Green;Literature;NHS GMS Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 2V, OMIM:619493 34143952 False 3 100;0;0 7.16 False ENSG00000116406 ENSG00000116406 HGNC:16787 EOGT gene EOGT Expert list;Expert Review Green;NHS GMS Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 4 OMIM:615297;Adams-Oliver syndrome 4 MONDO:0014124 23522784;31368252;29924900 False 3 100;0;0 7.16 False ENSG00000163378 ENSG00000163378 HGNC:28526 EXT1 gene EXT1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Exostoses, multiple, type 1 133700;Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) 12417417 False 3 100;0;0 7.16 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic 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) 12417417 False 3 100;0;0 7.16 False ENSG00000151348 ENSG00000151348 HGNC:3513 FKRP gene FKRP Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic 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 27421908 False 3 100;0;0 7.16 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic 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;Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27421908 False 3 100;0;0 7.16 False ENSG00000106692 ENSG00000106692 HGNC:3622 FUK gene FUK Expert list;Expert Review Green;NHS GMS Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324;congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777 30503518;35718084;36426412 False 3 50;50;0 7.16 False ENSG00000157353 ENSG00000157353 HGNC:29500 FUT8 gene FUT8 Expert Review Green;Literature Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation, 618005 29304374 False 3 100;0;0 7.16 False ENSG00000033170 ENSG00000033170 HGNC:4019 G6PC3 gene G6PC3 Expert list;Expert Review Green;NHS GMS Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Dursun syndrome OMIM:612541;Neutropenia, severe congenital 4, autosomal recessive OMIM:612541;autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012930 19118303;21385794;20616219 False 3 100;0;0 7.16 False ENSG00000141349 ENSG00000141349 HGNC:24861 GALNT2 gene GALNT2 Expert Review Green;Literature Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIt 618885 27508872;32293671 False 3 100;0;0 7.16 False ENSG00000143641 ENSG00000143641 HGNC:4124 GALNT3 gene GALNT3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Tumoral calcinosis, hyperphosphatemic, familial 211900;Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) 15133511 False 3 100;0;0 7.16 False ENSG00000115339 ENSG00000115339 HGNC:4125 GFPT1 gene GFPT1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542 23569079 False 3 100;0;0 7.16 False ENSG00000198380 ENSG00000198380 HGNC:4241 GMPPA gene GMPPA Expert list;Expert Review Green Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) 24035193;28574218 False 3 100;0;0 7.16 False ENSG00000144591 ENSG00000144591 HGNC:22923 GMPPB gene GMPPB Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350;muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351;muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352;autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142" 28456886;27874200;25681410;26133662;23768512 False 3 100;0;0 7.16 False ENSG00000173540 ENSG00000173540 HGNC:22932 GNE gene GNE Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy 605820;ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 26721333 False 3 100;0;0 7.16 False ENSG00000159921 ENSG00000159921 HGNC:23657 GORAB gene GORAB Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Research;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum OMIM:231070;geroderma osteodysplastica MONDO:0009271 26000619;18348262;28807865;30631079 False 3 75;0;25 7.16 False ENSG00000120370 ENSG00000120370 HGNC:25676 ISPD gene ISPD Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic 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" 26404900;26687144 False 3 100;0;0 7.16 False ENSG00000214960 ENSG00000214960 HGNC:37276 LARGE1 gene LARGE1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic 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; N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27421908 False 3 100;0;0 7.16 False ENSG00000133424 ENSG00000133424 HGNC:6511 LFNG gene LFNG Emory Genetics Laboratory;Expert Review Green;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813;O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 16385447;29459493;30196550;30531807;33728697;34645488;37038048;38565611 False 3 67;0;33 7.16 False ENSG00000106003 ENSG00000106003 HGNC:6560 MAGT1 gene MAGT1 Expert Review Green;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853;IAP-CDG (Disorders of protein N-glycosylation) 27604308;27393411;31036665;31714901 False 3 75;0;25 7.16 False ENSG00000102158 ENSG00000102158 HGNC:28880 MAN1B1 gene MAN1B1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 15 614202; MAN1B1-CDG (Disorders of protein N-glycosylation) 24348268 False 3 100;0;0 7.16 False ENSG00000177239 ENSG00000177239 HGNC:6823 MAN2B2 gene MAN2B2 Expert Review Green;Literature;NHS GMS Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type 1EE with or without immunodeficiency, OMIM:621140 31775018;35637269;38622837 False 3 100;0;0 7.16 False ENSG00000013288 ENSG00000013288 HGNC:29623 MGAT2 gene MGAT2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIa 212066; N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation) 19419693 False 3 100;0;0 7.16 False ENSG00000168282 ENSG00000168282 HGNC:7045 MOGS gene MOGS Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb 606056;MOGS-CDG (Disorders of protein N-glycosylation) 4716661;24716661;20301507;26805780 False 3 100;0;0 7.16 False ENSG00000115275 ENSG00000115275 HGNC:24862 MPDU1 gene MPDU1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, OMIM:609180;Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 11733556 False 3 100;0;0 7.16 False ENSG00000129255 ENSG00000129255 HGNC:7207 MPI gene MPI Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, OMIM:602579;MPI-CDG, MONDO:0011257;Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation) 12414827;9585601;10980531;33098580;33204592;32905087;32266963;30242110 False 3 100;0;0 7.16 False ENSG00000178802 ENSG00000178802 HGNC:7216 NGLY1 gene NGLY1 Emory Genetics Laboratory;Expert Review Green Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation 615273 False 3 50;0;50 7.16 False ENSG00000151092 ENSG00000151092 HGNC:17646 PGAP2 gene PGAP2 Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 3 614207; PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 23561846;23561847 False 3 100;0;0 7.16 False ENSG00000148985 ENSG00000148985 HGNC:17893 PGAP3 gene PGAP3 Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal "Hyperphosphatasia with mental retardation syndrome 4 615716" 24439110 False 3 100;0;0 7.16 False ENSG00000161395 ENSG00000161395 HGNC:23719 PGM1 gene PGM1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation 615273 27206562 False 3 100;0;0 7.16 False ENSG00000079739 ENSG00000079739 HGNC:8905 PGM3 gene PGM3 Emory Genetics Laboratory;Expert Review Green;Literature;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 23 615816" 24698316 False 3 100;0;0 7.16 False ENSG00000013375 ENSG00000013375 HGNC:8907 PIGA gene PIGA Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868;PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 25885527 False 3 100;0;0 7.16 False ENSG00000165195 ENSG00000165195 HGNC:8957 PIGL gene PIGL Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal CHIME syndrome 280000; PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 22444671 False 3 100;0;0 7.16 False ENSG00000108474 ENSG00000108474 HGNC:8966 PIGM gene PIGM Expert Review Green;Literature;NHS GMS;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol deficiency, OMIM:610293 27604308;16767100;25293775;17442906;31445883 False 3 100;0;0 7.16 False ENSG00000143315 ENSG00000143315 HGNC:18858 PIGN gene PIGN Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal "Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080" 21493957;26419326 False 3 100;0;0 7.16 False ENSG00000197563 ENSG00000197563 HGNC:8967 PIGO gene PIGO Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 2 614749;(Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 22683086;27177984;24129430 False 3 100;0;0 7.16 False ENSG00000165282 ENSG00000165282 HGNC:23215 PIGS gene PIGS Expert list;Expert Review Green Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 18 618143 30269814 False 3 100;0;0 7.16 False ENSG00000087111 ENSG00000087111 HGNC:14937 PIGT gene PIGT Expert Review Green;Literature Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal "Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398" 23636107;28327575 False 3 0;0;100 7.16 False ENSG00000124155 ENSG00000124155 HGNC:14938 PIGV gene PIGV Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 1 239300;(Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 20802478;24129430 False 3 100;0;0 7.16 False ENSG00000060642 ENSG00000060642 HGNC:26031 PIGW gene PIGW Emory Genetics Laboratory;Expert Review Green;Literature;NHS GMS Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 11 OMIM:616025;hyperphosphatasia with intellectual disability syndrome 5 MONDO:0014457 24367057;27626616;30813920;32198969 False 3 75;0;25 7.16 False ENSG00000184886 ENSG00000277161 HGNC:23213 PMM2 gene PMM2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065; Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation) 11058895;11409861;11875054 False 3 100;0;0 7.16 False ENSG00000140650 ENSG00000140650 HGNC:9115 POMGNT1 gene POMGNT1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157; Retinitis pigmentosa 76 617123; Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27421908 False 3 100;0;0 7.16 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830" 27066570 False 3 100;0;0 7.16 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert list;Expert Review Green;NHS GMS Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249;muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101 23519211;24556084;24925318;29910097 False 3 100;0;0 7.16 False ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27421908 False 3 100;0;0 7.16 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic 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; Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27421908 False 3 100;0;0 7.16 False ENSG00000009830 ENSG00000009830 HGNC:19743 RFT1 gene RFT1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In 612015; Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) 23111317 False 3 100;0;0 7.16 False ENSG00000163933 ENSG00000163933 HGNC:30220 SEC23B gene SEC23B Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type II, OMIM:224100;COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) 22208203;35163229 False 3 100;0;0 7.16 False ENSG00000101310 ENSG00000101310 HGNC:10702 SLC35A1 gene SLC35A1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIf, 603585;CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 15576474;23873973;28856833;30115659 False 3 100;0;0 7.16 False ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A2 gene SLC35A2 Expert Review Green;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation 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 IIm OMIM:300896;Developmental and epileptic encephalopathy-22 OMIM:300896;SLC35A2-CDG MONDO:0010478 23561849;24115232;27743886;25778940;30817854 False 3 100;0;0 7.16 False ENSG00000102100 ENSG00000102100 HGNC:11022 SLC35C1 gene SLC35C1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIc 266265; GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 11326280;12476046 False 3 100;0;0 7.16 False ENSG00000181830 ENSG00000181830 HGNC:20197 SLC35D1 gene SLC35D1 Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Schneckenbecken dysplasia OMIM:269250;schneckenbecken dysplasia MONDO:0010013 17952091;19508970 False 3 100;0;0 7.16 False ENSG00000116704 ENSG00000116704 HGNC:20800 SLC37A4 gene SLC37A4 Expert Review Green;Literature;NHS GMS Congenital disorders of glycosylation Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital disorder of glycosylation, type IIw, OMIM:619525 32884905;33728255;33964207 False 3 100;0;0 7.16 False ENSG00000137700 ENSG00000137700 HGNC:4061 SLC39A8 gene SLC39A8 Expert Review Green;Other;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn 616721 26637979;26637978 False 3 100;0;0 7.16 False ENSG00000138821 ENSG00000138821 HGNC:20862 SRD5A3 gene SRD5A3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital Disorder of Glycosylation, Type Iq OMIM:612379;Kahrizi Syndrome OMIM:612713 27480077;32424323 False 3 100;0;0 7.16 False ENSG00000128039 ENSG00000128039 HGNC:25812 SSR4 gene SSR4 Expert Review Green;Other Congenital disorders of glycosylation Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital disorder of glycosylation, type Iy 300934 26264460 False 3 100;0;0 7.16 False ENSG00000180879 ENSG00000180879 HGNC:11326 ST3GAL3 gene ST3GAL3 Emory Genetics Laboratory;Expert Review Green;Literature;NHS GMS;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 15, OMIM:615006;developmental and epileptic encephalopathy, 15, MONDO:0014003;Intellectual developmental disorder, autosomal recessive 12, OMIM:611090;intellectual disability, autosomal recessive 12, MONDO:0012612 27604308;21907012;23252400;31584066;17120046;25529582 False 3 100;0;0 7.16 False ENSG00000126091 ENSG00000126091 HGNC:10866 ST3GAL5 gene ST3GAL5 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Salt and pepper developmental regression syndrome 609056; Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 15502825;24026681 False 3 100;0;0 7.16 False ENSG00000115525 ENSG00000115525 HGNC:10872 STT3A gene STT3A Expert Review Green;NHS GMS;Other;UKGTN Congenital disorders of glycosylation Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714;Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596 23842455;30701557;28424003;34653363 False 3 100;0;0 7.16 False ENSG00000134910 ENSG00000134910 HGNC:6172 TMEM165 gene TMEM165 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk 614727 27401145;22683087 False 3 100;0;0 7.16 False ENSG00000134851 ENSG00000134851 HGNC:30760 TMEM199 gene TMEM199 Expert Review Green;NHS GMS;Other;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIp OMIM:616829;TMEM199-CDG MONDO:0014790 26833330;29321044 False 3 100;0;0 7.16 False ENSG00000244045 ENSG00000244045 HGNC:18085 TMEM5 gene TMEM5 Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 615041" 27212206 False 3 100;0;0 7.16 False ENSG00000118600 ENSG00000118600 HGNC:13530 TUSC3 gene TUSC3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 7, OMIM:611093 18452889;18455129;21739581;26864433;27148795 False 3 100;0;0 7.16 False ENSG00000104723 ENSG00000104723 HGNC:30242 UGGT1 gene UGGT1 Expert Review Green;Literature;NHS GMS Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal congenital disorder of glycosylation, MONDO:0015286 40267907 False 3 100;0;0 7.16 False ENSG00000136731 ENSG00000136731 HGNC:15663 XYLT1 gene XYLT1 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal "Desbuquois dysplasia 2 615777" 23982343;24581741;22711505;30554721 False 3 100;0;0 7.16 False ENSG00000103489 ENSG00000103489 HGNC:15516 XYLT2 gene XYLT2 Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal "Spondyloocular syndrome 605822" 26027496;26987875 False 3 100;0;0 7.16 False ENSG00000015532 ENSG00000015532 HGNC:15517 COG3 gene COG3 Expert Review Amber;Literature Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, OMIM:620546 37711075 False 2 0;100;0 7.16 False ENSG00000136152 ENSG00000136152 HGNC:18619 SSR3 gene SSR3 Expert Review Amber;Literature Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation 30945312 False 2 0;100;0 7.16 False ENSG00000114850 ENSG00000114850 HGNC:11325 TRAPPC11 gene TRAPPC11 Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation 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;67;33 7.16 False ENSG00000168538 ENSG00000168538 HGNC:25751 ALG10 gene ALG10 Expert Review Red;Literature Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Progressive myoclonus epilepsy;CDG 33798445 False 1 0;0;100 7.16 False ENSG00000139133 ENSG00000139133 HGNC:23162 ALG13 gene ALG13 Emory Genetics Laboratory;Expert Review Red;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Epileptic encephalopathy, early infantile, 36 300884; ALG13-CDG (Disorders of protein N-glycosylation) 27604308;22492991;25732998 False 1 100;0;0 7.16 False ENSG00000101901 ENSG00000101901 HGNC:30881 ALG2 gene ALG2 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Ii 607906; Myasthenic syndrome, congenital, 14, with tubular aggregates 616228; Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation) 23404334;12684507 False 1 0;0;100 7.16 False ENSG00000119523 ENSG00000119523 HGNC:23159 C1GALT1C1 gene C1GALT1C1 Expert Review Red;Literature;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic Other - please specify in evaluation comments Tn polyagglutination syndrome, somatic 300622; COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) 27604308;19778426;27536663 False 1 0;0;100 7.16 False ENSG00000171155 ENSG00000171155 HGNC:24338 CAD gene CAD Other Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Iz 616457 False 1 0;50;50 7.16 False ENSG00000084774 ENSG00000084774 HGNC:1424 CAMLG gene CAMLG Literature Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIz, OMIM:620201 35262690 False 1 0;0;100 7.16 False ENSG00000164615 ENSG00000164615 HGNC:1471 COG2 gene COG2 Expert Review Red;Literature Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type IIq, 617395 11980916;24784932 False 1 0;0;100 7.16 False ENSG00000135775 ENSG00000135775 HGNC:6546 DHDDS gene DHDDS Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 59, OMIM:613861;?Congenital disorder of glycosylation, type 1bb, OMIM:613861 27343064;21295282;21295283 False 1 0;0;100 7.16 False ENSG00000117682 ENSG00000117682 HGNC:20603 GALNT12 gene GALNT12 Literature;UKGTN Congenital disorders of glycosylation Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Colorectal cancer, susceptibility to, 1} 608812; GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies) 27604308 False 1 0;0;100 7.16 False ENSG00000119514 ENSG00000119514 HGNC:19877 GLS gene GLS Literature Congenital disorders of glycosylation Metabolic Unknown Glucosidase 1 deficiency (Disorders of protein N-glycosylation) 27604308 False 1 0;100;0 7.16 False ENSG00000115419 ENSG00000115419 HGNC:4331 NUS1 gene NUS1 Other Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type 1aa 617082 False 1 0;0;100 7.16 False ENSG00000153989 ENSG00000153989 HGNC:21042 OSTC gene OSTC Expert Review Red;Literature Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Oligosaccharyltransferase complex-congenital disorders of glycosylation 32267060 False 1 0;0;100 7.16 False ENSG00000198856 ENSG00000198856 HGNC:24448 SLC35A3 gene SLC35A3 Expert Review Red;Literature Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 24031089 False 1 0;0;100 7.16 False ENSG00000117620 ENSG00000117620 HGNC:11023 STT3B gene STT3B Other;UKGTN Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Ix 615597 False 1 0;0;100 7.16 False ENSG00000163527 ENSG00000163527 HGNC:30611 STX5 gene STX5 Literature Congenital disorders of glycosylation Metabolic BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type IIaa, OMIM:620454 34711829 False 1 0;0;100 7.16 False ENSG00000162236 ENSG00000162236 HGNC:11440