1. Genes and Genomic Entities
  2. GGPS1

GGPS1

geranylgeranyl diphosphate synthase 1
OMIM: 606982, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green GGPS1 in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.71

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518
Green GGPS1 in Congenital muscular dystrophy


Level 2: Neurology
Version 6.8
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518
    Green GGPS1 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518
    Amber GGPS1 in Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518