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Mitochondrial disease

Gene: PPCS

Green List (high evidence)

PPCS (phosphopantothenoylcysteine synthetase)
EnsemblGeneIds (GRCh38): ENSG00000127125
EnsemblGeneIds (GRCh37): ENSG00000127125
OMIM: 609853, Gene2Phenotype
PPCS is in 4 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Now 6 individuals of paediatric onset DCM from 3 families with supporting biochemical and functional assays
PMID: 35616428 - an individual that died at 4 months from DCM and multiorgan failure with biallelic variants c.[613-3C>G]; [320_334del] p.[?]; [Pro107_Ala111del] with extracardiac manifestations including dysmorphic features and muscular hypotonia. Patient fibroblasts collected postmortem showed a significant decrease in Coenzyme A levels and the absence of PPCS protein expression.
PMID: 29754768 - 5 individuals from 2 families with severe DCM presenting at 2 weeks to 3 years old with biallelic variants (1 individual with p.[Ala180Pro]; [Pro107_Ala111del] & 4 individuals from a consanguineous family with p.[Glu233Val];[Glu233Val]). Studies in yeast and drosophila confirmed the pathogenicity of identified variants. Biochemical analysis revealed a decrease in CoA levels in the fibroblasts of all affected individuals.
Created: 6 Apr 2023, 12:54 a.m. | Last Modified: 6 Apr 2023, 12:54 a.m.
Panel Version: 1.763

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 2C, MIM# 618189

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein and cardiac dysfunction observed in Drosophila model.
Sources: Expert list
Created: 13 Apr 2020, 7:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 2C, MIM# 618189

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cardiomyopathy, dilated, 2C, MIM# 618189
OMIM
609853
Clinvar variants
Variants in PPCS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: PPCS were set to 29754768

6 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppcs has been classified as Amber List (Moderate Evidence).

13 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppcs has been classified as Amber List (Moderate Evidence).

13 Apr 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: PPCS was added gene: PPCS was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: PPCS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPCS were set to 29754768 Phenotypes for gene: PPCS were set to Cardiomyopathy, dilated, 2C, MIM# 618189 Review for gene: PPCS was set to AMBER