Genomics England

Hypertrophic cardiomyopathy - teen and adult (Version: )

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

Relevant disorders: Hypertrophic Cardiomyopathy, HCM, R131

Signed off date: 15 Oct 2020

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

21 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACTC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTN2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CACNA1C	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CSRP3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FHL1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FHOD3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FLNC	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLA	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	JPH2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LAMP2	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	MYBPC3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYH7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYL2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYL3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PLN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRKAG2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TNNC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TNNI3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TNNT2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TPM1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TTR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	treatable

Hypertrophic cardiomyopathy - teen and adult (Version: 4.03.02.11)

Hypertrophic cardiomyopathy - teen and adult (Version: )