Genomics England

Osteogenesis imperfecta (Version: )

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

Relevant disorders: Osteogenesis Imperfecta, R102

Signed off date: 13 Feb 2020

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

31 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ALPL	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	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	BMP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CASR	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	COL1A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL1A2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CREB3L1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRTAP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DSPP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FAM46A	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	FKBP10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GORAB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFITM5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LRP5	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	NBAS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NOTCH2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	P3H1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	P4HB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	PLOD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLS3	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	PPIB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEC24D	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERPINF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERPINH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SP7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPARC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM38B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPV6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A

Osteogenesis imperfecta (Version: 4.03.02.2)

Osteogenesis imperfecta (Version: )