PanelApp
  1. Genes and Genomic Entities
  2. TTPA

TTPA

alpha tocopherol transfer protein
OMIM: 600415, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green TTPA in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia with isolated vitamin E deficiency, MIM# 277460

Green TTPA in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.594

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

Green TTPA in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.59

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    • Royal Melbourne Hospital
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ataxia with isolated vitamin E deficiency
    • Ataxia with Vitamin E Deficiency
    • Ataxia with isolated vitamin E deficiency, 277460

    Green TTPA in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.60

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ataxia with isolated vitamin E deficiency, MIM# 277460

    Green TTPA in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.40

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Ataxia with vitamin E deficiency
    • Early-onset ataxia and sensory axonal neuropathy similar to Friedreich’s ataxia, head titubation, normal fat absorption unlike abetalipoproteinemia, rarely retinitis pigmentosa

    Green TTPA in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.234

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews Unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    • RetNet
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green TTPA in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ataxia with isolated vitamin E deficiency, 277460 (3)

    Green TTPA in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Ataxia with isolated vitamin E deficiency

    Green TTPA in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.57

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Ataxia with isolated vitamin E deficiency MIM#277460
    • disorders of vitamins and cofactors

    Green TTPA in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ataxia with isolated vitamin E deficiency, 277460 (3)

    Green TTPA in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Ataxia with isolated vitamin E deficiency MIM#277460
    Tags
    • treatable
    • neurological

    Green TTPA in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ataxia with isolated vitamin E deficiency MIM#277460

    Red TTPA in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review green
    Phenotypes
    • familial isolated deficiency of vitamin E MONDO:0010188
    • Other disorders of vitamin metabolism