Genomics England

Congenital myopathy (Version: )

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

Relevant disorders: R81

Signed off date: 2 Mar 2020

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

61 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACTA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACTN2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ADSSL1	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	AR_CAG STR	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	STR
Green	BIN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1S	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC78	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CFL2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL12A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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	DMPK_CTG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DNM2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	DOK7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ECEL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKBP14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FXR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37408-Loss 2p15p16.1 region (includes BCL11A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37420-Loss 17q21.3 recurrent region (includes KANSL1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37429-Loss 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KBTBD13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	KLHL40	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KLHL41	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMNA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMOD3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAP3K20	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEGF10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTM1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MYBPC1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYH2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MYH3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MYH7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MYH8	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MYL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYMK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO18B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYPN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORAI1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	PAX7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIEZO2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PYROXD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RYR1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	pharmacogenetics, treatable
Green	RYR3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCN4A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SELENON	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPEG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STIM1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	TNNI2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNNT3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TPM2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TPM3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TRIP4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VMA21	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A

Congenital myopathy (Version: 4.334.03.02.2)

Congenital myopathy (Version: )