Genomics England
GMS Panels
Panels
Genes and Entities

PCSK1

proprotein convertase subtilisin/kexin type 1
OMIM: 162150
PanelMode of inheritanceDetails
2 panels
Green
in Intestinal failure or congenital diarrhoea
R-numbers: R331
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Obesity with impaired prohormone processing, OMIM:600955, obesity due to prohormone convertase I deficiency, MONDO:0010961, {Obesity, susceptibility to, BMIQ12},OMIM:612362
Green
in Severe early-onset obesity
R-numbers: R149
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Obesity with impaired prohormone processing, OMIM:600955, obesity due to prohormone convertase I deficiency, MONDO:0010961, {Obesity, susceptibility to, BMIQ12},OMIM:612362