Familial chylomicronaemia syndrome (FCS) (Version: )

Relevant disorders: Lipoprotein lipase deficiency, R324
Signed off date: 22 Mar 2023
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
8 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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