Rare genetic inflammatory skin disorders
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
1 review
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: AGPS; Suggested initial gene rating: Red; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:02 p.m.
Details
- Sources
-
- London North GLH
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Photoallergic dermatitis
- OMIM
- 603051
- Clinvar variants
- Variants in AGPS
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Rare genetic inflammatory skin disorders
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Peroxisomal disorders
- Monogenic diabetes
- Intellectual disability
- Chondrodysplasia punctata
- Skeletal dysplasia
- Insulin resistance (including lipodystrophy)
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Structural eye disease
- Likely inborn error of metabolism
History Filter Activity
18 Feb 2019, Gel status: 1
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to AGPS.
31 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: AGPS was added gene: AGPS was added to Rare genetic inflammatory skin disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: AGPS was set to Phenotypes for gene: AGPS were set to Photoallergic dermatitis