AGPS

alkylglycerone phosphate synthase
OMIM: 603051, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green AGPS in Chondrodysplasia punctata

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.4

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 1.6

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • 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 1.12

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, 608594

Green AGPS in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.67
Latest signed off version: v2.2 (19 Feb 2020)

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


Version 1.38
Latest signed off version: v1.6 (15 Oct 2020)

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

Red AGPS in Monogenic diabetes


Version 2.41
Latest signed off version: v2.2 (25 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Lipodystrophy, congenital generalized, type 1, 608594

Green AGPS in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.85
Latest signed off version: v2.84 (16 Dec 2021)

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 1.450

    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 Inborn errors of metabolism


    Version 2.105
    Latest signed off version: v2.104 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

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

    Green AGPS in DDG2P


    Version 2.21
    Latest signed off version: v2.2 (13 Feb 2020)

    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

    Green AGPS in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Rhizomelic chondrodysplasia punctata, type 3, 600121
    Tags
    • for-review

    Red AGPS in Structural eye disease


    Version 1.52
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Rhizomelic chondrodysplasia punctata, type 3, 600121

    Red AGPS in Childhood onset dystonia or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

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

    Green AGPS in Severe Paediatric Disorders


    Version 1.66

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Rhizomelic chondrodysplasia punctata, type 3, 600121