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Cataracts

Gene: AGPS

Green List (high evidence)

AGPS (alkylglycerone phosphate synthase)
EnsemblGeneIds (GRCh38): ENSG00000018510
EnsemblGeneIds (GRCh37): ENSG00000018510
OMIM: 603051, Gene2Phenotype
AGPS is in 15 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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)

Green List (high evidence)

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

History Filter Activity

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for AGPS were set to Rhizomelic chondrodysplasia punctata type 3;rhizomelic chondrodysplasia punctata type 3 (RCDP3)

14 Jun 2016, Gel status: 4

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

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for AGPS was changed to BIALLELIC, autosomal or pseudoautosomal

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

AGPS was added to Cataractspanel. Sources: UKGTN