Muscular dystrophy and myopathy_Paediatric

Gene: GGPS1

Green List (high evidence)

GGPS1 (geranylgeranyl diphosphate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000152904
EnsemblGeneIds (GRCh37): ENSG00000152904
OMIM: 606982, Gene2Phenotype
GGPS1 is in 4 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Muscular dystrophy ranged from prenatal/congenital onset with progression to loss of ambulation and respiratory failure in early teenage years, to milder manifestations with preserved ambulation into adulthood.
Created: 29 Jul 2020, 11:53 p.m. | Last Modified: 29 Jul 2020, 11:53 p.m.
Panel Version: 0.255

Zornitza Stark (Victorian Clinical Genetics Services; 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, 12:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518; Muscular dystrophy; Deafness; Ovarian insufficiency

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518
  • Muscular dystrophy
  • Deafness
  • Ovarian insufficiency
OMIM
606982
Clinvar variants
Variants in GGPS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GGPS1 were changed from Muscular dystrophy; Deafness; Ovarian insufficiency to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518; Muscular dystrophy; Deafness; Ovarian insufficiency

8 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ggps1 has been classified as Green List (High Evidence).

8 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ggps1 has been classified as Green List (High Evidence).

8 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GGPS1 was added gene: GGPS1 was added to 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