Congenital Disorders of Glycosylation (Version 1.58)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 139 Entitiess
Green List (high evidence)	ALG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ik 608540 Tags
Green List (high evidence)	ALG11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ip, MIM# 613661 Tags
Green List (high evidence)	ALG12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ig 607143 Tags
Green List (high evidence)	ALG13	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Is (MIM# 300884) Tags
Green List (high evidence)	ALG14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Tags
Green List (high evidence)	ALG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Id, MIM# 601110 Tags
Green List (high evidence)	ALG6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ic (MIM#603147) Tags
Green List (high evidence)	ALG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ih, MIM# 608104 Tags
Green List (high evidence)	ALG9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Il, MIM#608776 Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210 Tags
Green List (high evidence)	ATP6AP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes immunodeficiency-47 (MIM# 300972) Tags
Green List (high evidence)	ATP6AP2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIr, MIM# 301045 Tags
Green List (high evidence)	ATP6V0A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IIA, MIM# 219200 Wrinkly skin syndrome, MIM#278250 Tags
Green List (high evidence)	B3GALNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 MONDO:0014071 Tags
Green List (high evidence)	B3GALT6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Tags
Green List (high evidence)	B3GAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600 Tags
Green List (high evidence)	B3GLCT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peters-plus syndrome (MIM# 261540) Tags
Green List (high evidence)	B4GALNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 26, autosomal recessive (MIM #609195) Tags
Green List (high evidence)	B4GALT1	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	B4GALT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 Tags founder
Green List (high evidence)	CCDC115	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIo (MIM# 616828) Tags
Green List (high evidence)	CHST14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776 Tags
Green List (high evidence)	CHST3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095 Tags
Green List (high evidence)	CHST6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macular corneal dystrophy, MIM# 217800, MONDO:0009020 Tags
Green List (high evidence)	CHSY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533 CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags
Green List (high evidence)	COG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIg, MIM# 611209 Tags
Green List (high evidence)	COG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIj 613489 Tags
Green List (high evidence)	COG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIi, MIM# 613612 Tags
Green List (high evidence)	COG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIl, MIM# 614576 Tags
Green List (high evidence)	COG7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIe , MIM#608779 Tags
Green List (high evidence)	COG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIh, MIM# 611182 Tags
Green List (high evidence)	CSGALNACT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870 Tags
Green List (high evidence)	DHDDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type 1bb, MIM# 613861 Tags
Green List (high evidence)	DHRSX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type 1DD, MIM# 301133 Tags
Green List (high evidence)	DOLK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768 Tags
Green List (high evidence)	DPAGT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964 Tags
Green List (high evidence)	DPM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ie, MIM# 608799 Tags
Green List (high evidence)	DPM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iu, MIM#615042 Tags
Green List (high evidence)	DPM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992 Tags
Green List (high evidence)	EDEM3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type 2V, MIM# 619493 Tags
Green List (high evidence)	EOGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Adams-Oliver syndrome 4 (MIM #615297) scalp aplasia cutis congenita transverse terminal limb defects Tags
Green List (high evidence)	EXT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Exostoses, multiple, type 1 133700 Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Tags
Green List (high evidence)	EXT2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Seizures, scoliosis, and macrocephaly syndrome 616682 Exostoses, multiple, type 2 133701 Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Tags
Green List (high evidence)	EXTL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425 Tags
Green List (high evidence)	FKRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Tags
Green List (high evidence)	FKTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Tags
Green List (high evidence)	FUK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324 Tags
Green List (high evidence)	FUT8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Congenital disorder of glycosylation with defective fucosylation, 618005 Tags
Green List (high evidence)	G6PC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dursun syndrome 612541 Neutropenia, severe congenital 4, autosomal recessive 612541 Tags
Green List (high evidence)	GALNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIt, MIM# 618885 Tags
Green List (high evidence)	GALNT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900 Tags
Green List (high evidence)	GFPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 Limb-girdle congenital myasthenic syndrome Leukoencephalopathy Tags
Green List (high evidence)	GMPPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) Tags
Green List (high evidence)	GMPPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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) Tags
Green List (high evidence)	GNE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nonaka myopathy 605820 Sialuria MIM#269921 ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Tags
Green List (high evidence)	GORAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Geroderma osteodysplasticum MIM#231070 Tags
Green List (high evidence)	GPAA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810 Tags
Green List (high evidence)	ISPD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052 Tags
Green List (high evidence)	LARGE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 Tags
Green List (high evidence)	LFNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813 Tags
Green List (high evidence)	MAGT1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Icc (MIM# 301031) Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853) Tags
Green List (high evidence)	MAN1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 15, MIM#614202 Tags
Green List (high evidence)	MGAT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIa, MIM# 212066 MGAT2-CDG, MONDO:0008908 Tags
Green List (high evidence)	MOGS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIb, MIM# 606056 Tags
Green List (high evidence)	MPDU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211 Tags
Green List (high evidence)	MPI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579 MPI-CDG MONDO:0011257 Tags
Green List (high evidence)	NGLY1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of deglycosylation, MIM# 615273 alacrima, movement disorder, microcephaly, abnormal LFTs Tags
Green List (high evidence)	OGT	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Phenotypes Mental retardation, X-linked 106, MIM# 300997 Tags
Green List (high evidence)	PGAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628 Tags
Green List (high evidence)	PGAP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318 Tags
Green List (high evidence)	PGM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type It 614921 Tags treatable
Green List (high evidence)	PGM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 23, MIM# 615816 PGM3-CDG, MONDO:0014353 Tags
Green List (high evidence)	PIGA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 Tags
Green List (high evidence)	PIGB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Developmental and epileptic encephalopathy 80 618580 Tags
Green List (high evidence)	PIGH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010 Tags
Green List (high evidence)	PIGK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879 Tags
Green List (high evidence)	PIGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CHIME syndrome, MIM# 280000, MONDO:0010221 Tags founder SV/CNV
Green List (high evidence)	PIGN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563 Tags founder SV/CNV
Green List (high evidence)	PIGO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882 Tags
Green List (high evidence)	PIGP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Developmental and epileptic encephalopathy 55, MIM# 617599 Tags
Green List (high evidence)	PIGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Glycosylphosphatidylinositol biosynthesis defect 18 618143 Tags
Green List (high evidence)	PIGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165 Tags
Green List (high evidence)	PIGU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590 Tags
Green List (high evidence)	PIGV	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398 Tags
Green List (high evidence)	PIGW	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025 intractable seizures West syndrome severe developmental delay dysmorphic facial features hyperphosphatasia epilepsy recurrent respiratory infections hypotonia stereotypies Tags
Green List (high evidence)	PMM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ia 212065 Tags
Green List (high evidence)	POMGNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Tags
Green List (high evidence)	POMGNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830 Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 618135 Tags
Green List (high evidence)	POMK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	POMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Tags
Green List (high evidence)	POMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Tags
Green List (high evidence)	RFT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type In, MIM# 612015 RFT1-CDG, MONDO:0012783 Tags
Green List (high evidence)	SEC23B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyserythropoietic anemia, congenital, type II 224100 COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) Tags
Green List (high evidence)	SLC10A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363 Tags
Green List (high evidence)	SLC35A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIf, MIM# 603585 Tags
Green List (high evidence)	SLC35A2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIm (MIM #300896) Tags
Green List (high evidence)	SLC35A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arthrogryposis, mental retardation, and seizures OMIM #615553 Skeletal dysplasia Congenital disorder of glycosylation Tags
Green List (high evidence)	SLC35C1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 Tags
Green List (high evidence)	SLC35D1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Schneckenbecken dysplasia 269250, MONDO:0010013 O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) Tags
Green List (high evidence)	SLC37A4	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIw, MIM# 619525 Tags
Green List (high evidence)	SLC39A8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIn , MIM#16721 Tags
Green List (high evidence)	SRD5A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iq, MIM# 612379 Kahrizi syndrome, MIM# 612713 Tags
Green List (high evidence)	SSR4	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Congenital disorder of glycosylation, type Iy, MIM#300934 Tags
Green List (high evidence)	ST3GAL3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability, autosomal recessive 12 MIM# 611090 Tags
Green List (high evidence)	ST3GAL5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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) Tags founder
Green List (high evidence)	STT3A	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iw, AR, OMIM #615596 Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714 Tags
Green List (high evidence)	TMEM165	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIk, MIM# 614727 TMEM165-CDG, MONDO:0013870 Tags
Green List (high evidence)	TMEM199	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIp MIM# 616829 Tags
Green List (high evidence)	TMEM5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041, MONDO:0014022 Tags new gene name
Green List (high evidence)	TRAPPC9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 13 MIM#613192 Tags
Green List (high evidence)	TUSC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615 TUSC3-CDG (Disorders of protein N-glycosylation) Tags SV/CNV
Green List (high evidence)	VMA21	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Myopathy, X-linked, with excessive autophagy (MIM#310440) Tags
Green List (high evidence)	XYLT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Desbuquois dysplasia 2, MIM# 615777 Baratela-Scott syndrome Tags STR SV/CNV
Green List (high evidence)	XYLT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spondyloocular syndrome MIM# 605822 Tags
Amber List (moderate evidence)	COG3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IIbb, MIM# 620546 Tags
Amber List (moderate evidence)	DDOST	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ir, MIM# 614507 Tags
Amber List (moderate evidence)	MAN2B2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related Tags
Amber List (moderate evidence)	NUS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type 1aa, MIM#610463 Tags
Amber List (moderate evidence)	PIGM	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes 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 Tags founder
Amber List (moderate evidence)	POFUT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Dowling-Degos disease 2 (MIM# 615327) Tags
Amber List (moderate evidence)	SLC26A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Skeletal dysplasia (various) Tags
Amber List (moderate evidence)	SLC9A7	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Amber Phenotypes Intellectual developmental disorder, X-linked 108, OMIM #301024 Tags
Amber List (moderate evidence)	SSR3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation Tags
Amber List (moderate evidence)	STX5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes congenital disorder of glycosylation MONDO#0015286, STX5-related Tags
Amber List (moderate evidence)	TRAPPC11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356 Tags
Red List (low evidence)	ALG10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation, MONDO:0015286, ALG10-related Tags
Red List (low evidence)	ALG2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ii (MIM# 607906) Tags
Red List (low evidence)	CAMLG	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation type IIz, OMIM #: 620201 Tags
Red List (low evidence)	CHST8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Peeling Skin Syndrome Tags
Red List (low evidence)	COG2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIq (MIM# 617395) Tags
Red List (low evidence)	DSE	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539) Tags
Red List (low evidence)	GET4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Congenital disorder of glycosylation,, type IIy MIM#620200 Tags
Red List (low evidence)	MAN2A2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated Tags
Red List (low evidence)	OSTC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Oligosaccharyltransferase complex-congenital disorders of glycosylation Tags
Red List (low evidence)	PAPSS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847 Tags
Red List (low evidence)	PIGF	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356 Tags
Red List (low evidence)	POGLUT1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696) Tags
Red List (low evidence)	SEC23A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Craniolenticulosutural dysplasia (MIM# 607812) Tags
Red List (low evidence)	STT3B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ix 615597 Tags
Red List (low evidence)	TRIP11	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Tags

Congenital Disorders of Glycosylation (Version 1.58)

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