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Mendeliome

Gene: PPARA

Red List (low evidence)

PPARA (peroxisome proliferator activated receptor alpha)
EnsemblGeneIds (GRCh38): ENSG00000186951
EnsemblGeneIds (GRCh37): ENSG00000186951
OMIM: 170998, Gene2Phenotype
PPARA is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Polymorphisms associated with variations in cholesterol metabolism, no evidence for Mendelian gene-disease association.
Created: 19 Apr 2022, 6:48 a.m. | Last Modified: 19 Apr 2022, 6:48 a.m.
Panel Version: 0.13068

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Hyperapobetalipoproteinemia, susceptibility to}

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hyperapobetalipoproteinemia, susceptibility to}
OMIM
170998
Clinvar variants
Variants in PPARA
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppara has been classified as Red List (Low Evidence).

19 Apr 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PPARA were changed from to {Hyperapobetalipoproteinemia, susceptibility to}

19 Apr 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PPARA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Apr 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppara has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPARA was added gene: PPARA was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PPARA was set to Unknown