Bilateral congenital or childhood onset cataracts
Gene: AGPSEnsemblGeneIds (GRCh38): ENSG00000018510
EnsemblGeneIds (GRCh37): ENSG00000018510
OMIM: 603051, Gene2Phenotype
AGPS is in 14 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
rhizomelic chondrodysplasia punctata type 3 (RCDP3)
Publications
- de Vet et al (1998) J. Biol. Chem. 273: 10296-10301
- Itzkovitz et al (2011) Hum Mutat 33:189-197
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for Rhizomelic chondrodysplasia punctata type 3. This disorder includes cataracts, which is apparent at birth or develop in early infancy (Genetics Home Reference).Created: 28 Apr 2016, 11:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata type 3
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Rhizomelic chondrodysplasia punctata type 3
- rhizomelic chondrodysplasia punctata type 3 (RCDP3)
- OMIM
- 603051
- Clinvar variants
- Variants in AGPS
- Penetrance
- Complete
- Publications
-
- de Vet et al (1998) J. Biol. Chem. 273: 10296-10301
- Itzkovitz et al (2011) Hum Mutat 33:189-197
- Panels with this gene
-
- Peroxisomal disorders
- Monogenic diabetes
- Chondrodysplasia punctata
- Insulin resistance (including lipodystrophy)
- Undiagnosed metabolic disorders
- Bilateral congenital or childhood onset cataracts
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Likely inborn error of metabolism
- Fetal anomalies
- Structural eye disease
- Intellectual disability
- Rare genetic inflammatory skin disorders
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for AGPS were set to Rhizomelic chondrodysplasia punctata type 3;rhizomelic chondrodysplasia punctata type 3 (RCDP3)
Set publications
Ellen McDonagh (Genomics England Curator)Publications for AGPS were set to de Vet et al (1998) J. Biol. Chem. 273: 10296-10301; Itzkovitz et al (2011) Hum Mutat 33:189-197
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for AGPS was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()AGPS was added to Cataractspanel. Sources: UKGTN