This Panel is marked as Internal
Peroxisomal biogenesis 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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Rhizomelic Chondrodysplasia Punctata
- Rhizomelic Chondrodysplasia Punctata, Type 3
- RCDP3
- OMIM
- 603051
- Clinvar variants
- Variants in AGPS
- Penetrance
- Complete
- Panels with this gene
-
- Insulin resistance (including lipodystrophy)
- Structural eye disease
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Bilateral congenital or childhood onset cataracts
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Rare genetic inflammatory skin disorders
- Peroxisomal disorders
- DDG2P
- Chondrodysplasia punctata
History Filter Activity
7 Aug 2015, Gel status: 2
Added New Source
Eik Haraldsdottir (Genomics England)AGPS was added to Peroxisomal biogenesis disorderspanel. Sources: UKGTN
7 Aug 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)AGPS was added to Peroxisomal biogenesis disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services