Insulin resistance (including lipodystrophy)
Gene: AGPS
AGPS (alkylglycerone phosphate synthase)
EnsemblGeneIds (GRCh38): ENSG00000018510
EnsemblGeneIds (GRCh37): ENSG00000018510
OMIM: 603051, Gene2Phenotype
AGPS is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000018510
EnsemblGeneIds (GRCh37): ENSG00000018510
OMIM: 603051, Gene2Phenotype
AGPS is in 14 panels
2 reviews
Robert Semple (University of Cambridge)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Phenotype does not appear to be relevant to this panelCreated: 11 Aug 2016, 11:36 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Lipodystrophy, congenital generalized, type 1, 608594
- OMIM
- 603051
- Clinvar variants
- Variants in AGPS
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Rare genetic inflammatory skin disorders
- Peroxisomal disorders
- DDG2P
- Chondrodysplasia punctata
- Monogenic diabetes
- Insulin resistance (including lipodystrophy)
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
History Filter Activity
12 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 12/08/2016
11 Aug 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
11 Aug 2016, Gel status: 1
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for AGPS was changed to BIALLELIC, autosomal or pseudoautosomal
24 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)AGPS was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen