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

LFNG

LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
OMIM: 602576, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green LFNG in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.225

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Spondylocostal dysostosis 3, autosomal recessive, MIM#609813

Green LFNG in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.58

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813

    Green LFNG in Mendeliome


    Version 1.2302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813

    Green LFNG in Spondylocostal Dysostosis


    Level 2: Skeletal disorders
    Version 0.10

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spondylocostal dysostosis 3, autosomal recessive MIM#609813

    Green LFNG in Skeletal dysplasia

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

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spondylocostal dysostosis 3, autosomal recessive MIM#609813

    Green LFNG in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813