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  3. PPCS
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Dilated Cardiomyopathy

Gene: PPCS

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

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: This gene is associated with early-onset DCM and is not suitable for this panel which contains genes associated with adolescent and adult-onset DCM
Created: 6 Apr 2023, 12:58 a.m. | Last Modified: 6 Apr 2023, 12:58 a.m.
Panel Version: 1.16
Created: 6 Apr 2023, 12:58 a.m.
Last Modified: 6 Apr 2023, 12:58 a.m.
Panel version: 1.16

Michelle Torres (Victorian Clinical Genetics Services)

Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein; cardiac dysfunction in Drosophila model.

Since paper published in 2018, no new reports in Pubmed, ClinGen has not curated this gene, no new pathogenic variant in ClinVar and Decipher.
Created: 24 Feb 2022, 11:04 p.m. | Last Modified: 24 Feb 2022, 11:04 p.m.
Panel Version: 1.7

Phenotypes
Cardiomyopathy, dilated, 2C, MIM# 618189

Publications

Created: 24 Feb 2022, 11:04 p.m.
Last Modified: 24 Feb 2022, 11:04 p.m.
Panel version: 1.7

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; cardiac dysfunction in Drosophila model.
Sources: Expert list
Created: 13 Apr 2020, 7:20 a.m. | Last Modified: 13 Apr 2020, 7:31 a.m.
Panel Version: 0.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 2C, MIM# 618189

Publications

Created: 13 Apr 2020, 7:20 a.m.
Last Modified: 13 Apr 2020, 7:31 a.m.
Panel version: 0.29

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • 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: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ppcs has been classified as Red List (Low 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 Dilated Cardiomyopathy. 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