Lipodystrophy_Lipoatrophy
Gene: AGPAT2

AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000169692
EnsemblGeneIds (GRCh37): ENSG00000169692
OMIM: 603100, Gene2Phenotype
AGPAT2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is characterised by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia. Well established gene-disease association. Large CNVs commonly reported.
Created: 31 Dec 2020, 3:13 a.m. | Last Modified: 31 Dec 2020, 3:13 a.m.

Panel Version: 0.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lipodystrophy, congenital generalized, type 1, MIM# 608594

Publications

Created: 31 Dec 2020, 3:13 a.m.
Last Modified: 31 Dec 2020, 3:13 a.m.
Panel version: 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Lipodystrophy, congenital generalized, type 1, MIM# 608594

OMIM

603100

Clinvar variants

Variants in AGPAT2

Penetrance

None

Publications

Panels with this gene