Genomics England

Genes and Entities

Stickler syndrome (Version: )

Relevant disorders: R45

Signed off date: 22 Mar 2023

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

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9 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	BMP4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL11A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL11A2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL2A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL9A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GZF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VCAN	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A