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
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