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  2. Lipodystrophy_Lipoatrophy
  3. PPARG
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Lipodystrophy_Lipoatrophy

Gene: PPARG

Green List (high evidence)
PPARG (peroxisome proliferator activated receptor gamma)
EnsemblGeneIds (GRCh38): ENSG00000132170
EnsemblGeneIds (GRCh37): ENSG00000132170
OMIM: 601487, Gene2Phenotype
PPARG is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported.
Created: 27 Apr 2021, 10:48 a.m. | Last Modified: 27 Apr 2021, 10:48 a.m.
Panel Version: 0.76

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lipodystrophy, familial partial, type 3, MIM# 604367

Publications

Created: 27 Apr 2021, 10:48 a.m.
Last Modified: 27 Apr 2021, 10:48 a.m.
Panel version: 0.76

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, familial partial, type 3, MIM# 604367
  • MONDO:0011448
OMIM
601487
Clinvar variants
Variants in PPARG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PPARG were changed from to Lipodystrophy, familial partial, type 3, MIM# 604367; MONDO:0011448

27 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PPARG were set to

27 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPARG was added gene: PPARG was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PPARG was set to Unknown