GNPAT

glyceronephosphate O-acyltransferase
OMIM: 602744, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green GNPAT in Chondrodysplasia punctata

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.5

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Rhizomelic Chondrodysplasia Punctata
  • Chondrodysplasia punctata, rhizomelic, type 2, 222765
  • Rhizomelic chondrodysplasia punctata type 2
Green GNPAT in Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders
Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 2 222765
Green GNPAT in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Confirmed DD gene for Rhizomelic Chondrodysplasia Punctata type 2
  • rhizomelic chondrodysplasia punctata type 2 (RCDP2)
Green GNPAT in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Rhizomelic Chondrodysplasia Punctata
    • RCDP2
    • Rhizomelic chondrodysplasia punctata type 2
    • Chondrodysplasia punctata, rhizomelic, type 2, 222765
    Green GNPAT in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders)
    • Rhizomelic chondrodysplasia punctata, type 2 222765
    Green GNPAT in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    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 2 (Peroxisomal disorders)
    • Rhizomelic chondrodysplasia punctata, type 2 222765
    Green GNPAT in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2
    Green GNPAT in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 222765
    Green GNPAT in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Chondrodysplasia punctata, rhizomelic, type 2, 222765
    • RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 (RCDP2)
    Red GNPAT in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green GNPAT in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Rhizomelic chondrodysplasia punctata, type 2, 222765