Chondrodysplasia punctata
Gene: AGPSEnsemblGeneIds (GRCh38): ENSG00000018510
EnsemblGeneIds (GRCh37): ENSG00000018510
OMIM: 603051, Gene2Phenotype
AGPS is in 14 panels
3 reviews
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 29 Feb 2016, 5:29 p.m.
Comment on list classification: Promoted from amber to green due to a green review, plus a confirmed DD gene for this phenotype.Created: 29 Feb 2016, 5:29 p.m.
Helen Savage (Congenica Ltd)
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
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Rhizomelic chondrodysplasia punctata, type 3, 600121
- 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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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).
Added New Source
Eik Haraldsdottir (Genomics England)AGPS was added to Chondrodysplasia punctatapanel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)AGPS was added to Chondrodysplasia punctatapanel. Sources: Radboud University Medical Center, Nijmegen