Genomics England

Congenital myaesthenic syndrome (Version: )

Relevant disorders: Congenital myaesthenia, Congenital myasthenia, R80

Signed off date: 30 Oct 2024

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

26 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AGRN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	CHRNB1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	deletions
Green	CHRND	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	CHRNE	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL13A1	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	COLQ	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	DOK7	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	DPAGT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRP4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MUSK	BIALLELIC, autosomal or pseudoautosomal	N/A	deletions
Green	MYO9A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLEC	BIALLELIC, autosomal or pseudoautosomal	N/A	monogenic-polygenic
Green	RAPSN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCN4A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC18A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYT2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	VAMP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Congenital myaesthenic syndrome (Version: 4.84.64.54.03.02.2)

Congenital myaesthenic syndrome (Version: )