Genomics England

Genes and Entities

Paroxysmal central nervous system disorders (Version: )

Relevant disorders: Paroxysmal neurological disorders, pain disorders and sleep disorders, R66

Signed off date: 22 Mar 2023

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

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19 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ADCY5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATAD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP1A3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CACNA1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DNMT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLRA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GLRB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNA1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNMA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KCNQ2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PDE10A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNKD	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRRT2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCN1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC1A3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC2A1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A5	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	VAMP2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A