PPARG

peroxisome proliferator activated receptor gamma
OMIM: 601487, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red PPARG in Familial cicatricial alopecia Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.5	review	Unknown	Sources Expert Review Red Literature Phenotypes scarring alopecia primary cicatricial alopecia PCA lichen planopilaris LPP
No list PPARG in Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.11	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Obesity, severe, 601665 [Obesity, resistance to] Insulin resistance, severe, digenic, 604367 Lipodystrophy, familial partial, type 3, 604367 Carotid intimal medial thickness 1, 609338 {Diabetes, type 2}, 125853 Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Monogenic Diabetes Tags curated_removed
Red PPARG in Severe early-onset obesity Level 3: Obesity syndromes Level 2: Endocrine disorders Version 4.10 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Obesity, severe, 601665 [Obesity, resistance to] Insulin resistance, severe, digenic, 604367 Lipodystrophy, familial partial, type 3, 604367 Carotid intimal medial thickness 1, 609338 {Diabetes, type 2}, 125853
Green PPARG in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Obesity, severe, 601665 [Obesity, resistance to] Insulin resistance, severe, digenic, 604367 Lipodystrophy, familial partial, type 3, 604367 Carotid intimal medial thickness 1, 609338 {Diabetes, type 2}, 125853 Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 FPLD3
Green PPARG in Insulin resistance (including lipodystrophy) Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.16	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Insulin resistance, severe, digenic 604367 Lipodystrophy, familial partial, type 3 604367
Red PPARG in Ectodermal dysplasia Version 3.29 Latest signed off version: v3.0 (22 Mar 2023)	review	Unknown	Sources Expert Review Red Phenotypes lichen planopilaris LPP PCA primary cicatricial alopecia scarring alopecia
Green PPARG in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension Lipodystrophy, familial partial, type 3 Insulin resistance, severe, digenic
Green PPARG in Lipodystrophy - childhood onset Version 4.50 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Phenotypes Insulin resistance, severe, digenic 604367 Lipodystrophy, familial partial, type 3 604367
Green PPARG in Monogenic diabetes Version 2.57 Latest signed off version: v2.2 (25 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Lipodystrophy, familial partial, type 3, OMIM:604367 Insulin resistance, severe, digenic, OMIM:604367 Obesity, severe, OMIM:601665 {Diabetes, type 2}, OMIM:125853