Congenital myaesthenic syndrome (Version: )

There is a more recent signed-off version of this panel
Relevant disorders: Congenital myaesthenia, Congenital myasthenia, R80
Signed off date: 1 May 2024
Panel types: Rare Disease 100K, GMS Rare Disease, Component Of Super Panel, GMS signed-off
26 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
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 pseudoautosomalOtherN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherdeletions
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
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/Adeletions
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Amonogenic-polygenic
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/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A