Genomics England

Congenital disorders of glycosylation (Version: )

This panel is a component of a whole genome sequencing super panel and is only requestable via the superpanel.

Relevant disorders: Congential disorders of glycosylation

Signed off date: 6 Dec 2023

Panel types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off

95 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ALG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3	BIALLELIC, autosomal or pseudoautosomal	N/A	pathogenic-synonymous
Green	ALG6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6AP1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP6V0A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALT6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GAT3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC115	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHSY1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG5	BIALLELIC, autosomal or pseudoautosomal	N/A	non-coding-known-pathogenic
Green	COG6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSGALNACT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOLK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EDEM3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EXT2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUT8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	G6PC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GORAB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISPD	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	LARGE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAGT1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	MAN1B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGAT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOGS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPDU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPI	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NGLY1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGA	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	PIGL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGO	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGV	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGW	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEC23B	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q4_23_MOI
Green	SLC35A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35A2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	mosaicism
Green	SLC35C1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35D1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC37A4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC39A8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRD5A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SSR4	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ST3GAL3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ST3GAL5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STT3A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM165	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM199	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM5	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TUSC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Congenital disorders of glycosylation (Version: 4.134.03.02.4)

Congenital disorders of glycosylation (Version: )