AGPS

alkylglycerone phosphate synthase
OMIM: 603051, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Green AGPS in Chondrodysplasia punctata

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.6

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 3, 600121
Green AGPS in Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders
Version 1.20

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 3 600121
Red AGPS in Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, 608594
Green AGPS in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.6
Latest signed off version: v7.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Rhizomelic chondrodysplasia punctata type 3
  • rhizomelic chondrodysplasia punctata type 3 (RCDP3)
Red AGPS in Rare genetic inflammatory skin disorders


Level 2: Dermatology
Version 4.16
Latest signed off version: v4.0 (30 Apr 2025)

review Not set
Sources
  • London North GLH
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Photoallergic dermatitis
Red AGPS in Monogenic diabetes


Level 2: Endocrinology
Version 3.10
Latest signed off version: v3.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, 608594
Green AGPS in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121
    • Rhizomelic chondrodysplasia punctata, type 3 600121
    Green AGPS in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.642

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders)
    • Rhizomelic chondrodysplasia punctata, type 3 600121
    Green AGPS in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.91
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Rhizomelic chondrodysplasia punctata, type 3 600121
    • Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders)
    Green AGPS in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3
    Green AGPS in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 600121
    Amber AGPS in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Rhizomelic chondrodysplasia punctata, type 3, 600121
    Red AGPS in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Rhizomelic chondrodysplasia punctata, type 3, 600121
    Red AGPS in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH