Monogenic Diabetes
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
Hali Van Niel (University of Melbourne)
Well established gene disease association for rhizomelic chondrodysplasia punctata type 3, no evidence of association with diabetes for gene or diseaseCreated: 21 May 2024, 12:37 a.m. | Last Modified: 21 May 2024, 12:37 a.m.
Panel Version: 0.121
Mode of inheritance
Unknown
Phenotypes
rhizomelic chondrodysplasia punctata type 3 MONDO:0010823
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Lipodystrophy, congenital generalized, type 1, 608594
- OMIM
- 603051
- Clinvar variants
- Variants in AGPS
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Prepair 1000+
- Monogenic Diabetes
- Mendeliome
- Chondrodysplasia Punctata
- BabyScreen+ newborn screening
- Cataract
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Peroxisomal Disorders
History Filter Activity
17 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AGPS was added gene: AGPS was added to Monogenic diabetes. Sources: Expert Review Red Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGPS were set to Lipodystrophy, congenital generalized, type 1, 608594