Genomics England
GMS Panels
Panels
Genes and Entities

Hypertrophic cardiomyopathy (Version: )

Relevant disorders: Hypertrophic cardiomyopathy - teen and adult, HCM, R131
Signed off date: 22 Mar 2023
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off
See this panel in PanelApp
22 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
ACTC1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ACTN2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ALPK3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CACNA1C
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CSRP3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FHL1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
FHOD3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FLNC
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/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/AN/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/AN/A
Green
MYBPC3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MYH7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Awatchlist_moi
Green
MYL2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MYL3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PLN
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PRKAG2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TNNC1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TNNI3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TNNT2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TPM1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TRIM63
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TTR
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Atreatable