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Fetal anomalies

Gene: AGPAT2

Red List (low evidence)

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)

Red List (low evidence)

Neonatal presentation, but features unlikely to be detectable antenatally.
Created: 19 Dec 2021, 11:56 p.m. | Last Modified: 19 Dec 2021, 11:56 p.m.
Panel Version: 0.1455

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, MIM# 608594
OMIM
603100
Clinvar variants
Variants in AGPAT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: agpat2 has been classified as Red List (Low Evidence).

19 Dec 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AGPAT2 were changed from Lipodystrophy 608594 to Lipodystrophy, congenital generalized, type 1, MIM# 608594

19 Dec 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AGPAT2 were set to 22902344

24 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGPAT2 was added gene: AGPAT2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGPAT2 were set to 22902344 Phenotypes for gene: AGPAT2 were set to Lipodystrophy 608594