Skeletal muscle channelopathy (Version: )

There is a more recent signed-off version of this panel
Relevant disorders: R76, Myotonia congenita
Signed off date: 22 Mar 2022
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
16 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AQ2_21_phenotype
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AQ2_21_phenotype
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
STRMONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR, NGS Not Validated, Q4_21_expert_review
Green
STRMONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MITOCHONDRIALN/AN/A
Green
MITOCHONDRIALN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AQ2_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, imprinted status unknownN/AQ2_21_phenotype
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ2_21_phenotype