Genomics England

Genes and Entities

Skeletal muscle channelopathy (Version: )

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

Relevant disorders: R76, Myotonia congenita

Signed off date: 30 Nov 2022

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

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16 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ATP1A2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q2_21_rating, Q2_21_expert_review, Q2_21_phenotype
Green	ATP2A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q2_21_rating, Q2_21_expert_review, Q2_21_phenotype
Green	CACNA1S	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CLCN1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CNBP_CCTG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR, NGS Not Validated, Q4_21_expert_review, Q4_21_rating
Green	DMPK_CTG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	KCNA1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNJ2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MT-ATP6	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ATP8	MITOCHONDRIAL	N/A	gene-checked
Green	PYGM	BIALLELIC, autosomal or pseudoautosomal	N/A	Q2_21_rating, Q2_21_expert_review, Q2_21_phenotype
Green	RYR1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SCN4A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC1A3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q2_21_rating, Q2_21_expert_review, Q2_21_phenotype
Green	SLC2A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q2_21_phenotype, Q2_21_rating, Q2_21_expert_review