Hypertrophic cardiomyopathy (Version: )

There is a more recent signed-off version of this panel
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
22 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
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
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Awatchlist_moi
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Atreatable