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 disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, MONDO:0015286, ALG10-related				33798445		False	1	0;0;100	1.88	True		ENSG00000139133	ENSG00000139133	HGNC:23162													
CAMLG	gene	CAMLG	Expert Review Red;Literature	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation type IIz, OMIM #: 620201				PMID: 35262690		False	1	0;0;100	1.88	True		ENSG00000164615	ENSG00000164615	HGNC:1471													
CHST8	gene	CHST8	Expert Review Red;Victorian Clinical Genetics Services	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Peeling Skin Syndrome				22289416;28204496		False	1	0;0;100	1.88	True		ENSG00000124302	ENSG00000124302	HGNC:15993													
COG2	gene	COG2	Expert Review Red;Victorian Clinical Genetics Services	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IIq (MIM# 617395)				24784932		False	1	0;0;100	1.88	True		ENSG00000135775	ENSG00000135775	HGNC:6546													
DSE	gene	DSE	Expert Review Red;Victorian Clinical Genetics Services	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539)				23704329		False	1	0;0;100	1.88	True		ENSG00000111817	ENSG00000111817	HGNC:21144													
GET4	gene	GET4	Expert Review Red;Literature	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	?Congenital disorder of glycosylation,, type IIy MIM#620200				32395830		False	1	0;0;100	1.88	True		ENSG00000239857	ENSG00000239857	HGNC:21690													
NUS1	gene	NUS1	Expert Review Red;Victorian Clinical Genetics Services	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type 1aa, MIM#610463				25066056		False	1	0;50;50	1.88	True		ENSG00000153989	ENSG00000153989	HGNC:21042													
OSTC	gene	OSTC	Expert Review Red;Literature	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Oligosaccharyltransferase complex-congenital disorders of glycosylation				PMID: 32267060		False	1	0;0;100	1.88	True		ENSG00000198856	ENSG00000198856	HGNC:24448													
PAPSS2	gene	PAPSS2	Expert Review Red;Victorian Clinical Genetics Services	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847				22791835;25594860;31461705;23633440;9771708;19474428		False	1	0;0;100	1.88	True		ENSG00000198682	ENSG00000198682	HGNC:8604													
PIGF	gene	PIGF	Expert Review Red;Literature	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356				33386993		False	1	0;0;100	1.88	True		ENSG00000151665	ENSG00000151665	HGNC:8962													
POGLUT1	gene	POGLUT1	Expert Review Red;Victorian Clinical Genetics Services	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696)				27807076;24387993		False	1	0;100;0	1.88	True		ENSG00000163389	ENSG00000163389	HGNC:22954													
SEC23A	gene	SEC23A	Expert Review Red;Victorian Clinical Genetics Services	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Craniolenticulosutural dysplasia (MIM# 607812)				16980979;21039434;16980978;27148587		False	1	0;0;100	1.88	True		ENSG00000100934	ENSG00000100934	HGNC:10701													
STT3B	gene	STT3B	Expert Review Red;Victorian Clinical Genetics Services	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ix 615597				23842455		False	1	0;0;100	1.88	True		ENSG00000163527	ENSG00000163527	HGNC:30611													
TRIP11	gene	TRIP11	Expert Review Red;Victorian Clinical Genetics Services	Congenital Disorders of Glycosylation		Metabolic disorders	BIALLELIC, autosomal or pseudoautosomal					29872333;20089971;30728324;30518689		False	1	0;50;50	1.88	True		ENSG00000100815	ENSG00000100815	HGNC:12305