Genomics England
GMS Panels
Panels
Genes and Entities

GGPS1

geranylgeranyl diphosphate synthase 1
OMIM: 606982
PanelMode of inheritanceDetails
2 panels
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518