Rhabdomyolysis and metabolic muscle disorders (Version: )

This panel is a component of a whole genome sequencing super panel and is only requestable via the superpanel.
Signed off date: 23 Jun 2022
Panel types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
48 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ3_21_MOI
Green
BIALLELIC, autosomal or pseudoautosomalN/AQ1_22_MOI
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-therapy-trial, Skewed X-inactivation
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AQ4_21_expert_review
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic, to_be_confirmed_NHSE, for-review
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AQ4_21_rating, Q4_21_phenotype
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AQ2_21_rating
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A