Genomics England

Ehlers Danlos syndromes (Version: )

There is a more recent signed-off version of this panel

Relevant disorders: Classical Ehlers Danlos Syndrome, Classical Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense), Ehlers-Danlos syndrome type 3, Kyphoscoliotic Ehlers-Danlos syndrome, EDS, Ehlers-Danlos syndromes, R101

Signed off date: 4 Mar 2020

Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off

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47 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ADAMTS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AEBP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH18A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V0A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP7A	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	B3GALT6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BGN	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	C1R	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	C1S	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CBS	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	CHST14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL12A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL1A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL1A2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL3A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL5A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL5A2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL6A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DSE	BIALLELIC, autosomal or pseudoautosomal	N/A	missense
Green	EFEMP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELN	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBLN5	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FBN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FBN2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FKBP14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GORAB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LOX	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LTBP4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLOD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRDM5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYCR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RIN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROBO3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SKI	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC39A13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMAD2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMAD3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFB2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TGFB3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFBR1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TGFBR2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNXB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF469	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Ehlers Danlos syndromes (Version: 3.02.3)

Ehlers Danlos syndromes (Version: )