Congenital muscular dystrophy

Gene: GGPS1

No list

GGPS1 (geranylgeranyl diphosphate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000152904
EnsemblGeneIds (GRCh37): ENSG00000152904
OMIM: 606982, Gene2Phenotype
GGPS1 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

11 individuals from 6 unrelated families reported. In addition to proximal weakness, all but one patient presented with congenital sensorineural hearing loss, and all postpubertal females had primary ovarian insufficiency. Muscle histology was dystrophic, with ultrastructural evidence of autophagic material and large mitochondria in the most severe cases. Knock-in mouse of one of the mutations (Y259C) resulted in prenatal lethality.
Sources: Literature
Created: 8 Jul 2020, 12:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Muscular dystrophy; Deafness; Ovarian insufficiency


Variants in this GENE are reported as part of current diagnostic practice


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Muscular dystrophy
  • Deafness
  • Ovarian insufficiency
Clinvar variants
Variants in GGPS1
Panels with this gene

History Filter Activity

8 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: GGPS1 was added gene: GGPS1 was added to Congenital muscular dystrophy. Sources: Literature Mode of inheritance for gene: GGPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GGPS1 were set to 32403198 Phenotypes for gene: GGPS1 were set to Muscular dystrophy; Deafness; Ovarian insufficiency Review for gene: GGPS1 was set to GREEN gene: GGPS1 was marked as current diagnostic