PanelApp (staging)
  1. Genes and Genomic Entities
  2. TALDO1

TALDO1

transaldolase 1
OMIM: 602063, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green TALDO1 in Cholestasis


Level 2: Gastroenterological disorders
Version 1.0

Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Transaldolase deficiency, MIM# 606003

    Green TALDO1 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.324

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Transaldolase deficiency, MIM# 606003

    Green TALDO1 in Mendeliome


    Version 1.2302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Transaldolase deficiency , MIM#606003

    Green TALDO1 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 list
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Transaldolase deficiency 606003

    Green TALDO1 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
    • Transaldolase deficiency, 606003 (3)

    Green TALDO1 in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.24

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Transaldolase deficiency, MIM#606003

    Green TALDO1 in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.48

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Transaldolase deficiency , MIM#606003

    Green TALDO1 in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Transaldolase deficiency, 606003
    • Fetal hydrops

    Green TALDO1 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Transaldolase deficiency MIM#606003