PanelApp (staging)
  1. Genes and Genomic Entities
  2. GNPAT

GNPAT

glyceronephosphate O-acyltransferase
OMIM: 602744, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green GNPAT in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.225

1 review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Green GNPAT in Cataract


Level 2: Ophthalmological disorders
Version 0.373

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green GNPAT in Chondrodysplasia Punctata


Level 2: Skeletal disorders
Version 1.1

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765
  • MONDO:0009112

Green GNPAT in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765
  • MONDO:0009112

Green GNPAT in Peroxisomal Disorders


Level 2: Metabolic disorders
Version 0.54

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GNPAT in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • glyceronephosphate O-acyltransferase deficiency MONDO:0100273

    Green GNPAT in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • RCDP2
    • Rhizomelic Chondrodysplasia Punctata
    • Rhizomelic chondrodysplasia punctata type 2
    • Chondrodysplasia punctata, rhizomelic, type 2, 222765

    Green GNPAT in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3)

    Green GNPAT in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765
    • MONDO:0009112

    Green GNPAT in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Rhizomelic chondrodysplasia punctata, type 2 (MIM# 22276)5)

    Green GNPAT in Prepair 500+


    Level 2: Screening
    Version 1.5

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3)