TBCE

tubulin folding cofactor E
OMIM: 604934, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green TBCE in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.30

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory

Green TBCE in Familial hypoparathyroidism

Level 3: Disorders of calcium homeostasis
Level 2: Endocrine disorders
Version 2.4
Signed off v.2.2 on 25 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypoparathyroidism-retardation-dysmorphism syndrome, 241410
  • Caffey syndrome, type 1, 244460

Green TBCE in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.7
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Kenny-Caffey syndrome, type 1 244460.
    • Hypoparathyroidism-retardation-dysmorphism syndrome 241410
    • Kenny-Caffey syndrome, type 1 244460

    Green TBCE in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy
    • HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
    • KENNY-CAFFEY SYNDROME TYPE 1
    Tags
    • watchlist

    No list TBCE in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.6
    Signed off v.2.2 on 13 Feb 2020

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Proportionate Short Stature/Small for Gestational Age
    • Disproportionate Short Stature

    Green TBCE in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy
    • HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME 241410
    • KENNY-CAFFEY SYNDROME TYPE 1 244460
    Tags
    • watchlist

    Red TBCE in Growth failure in early childhood


    Version 1.8
    Signed off v.1.4 on 3 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red

    Green TBCE in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.82
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Kenny-Caffey syndrome-1, 244460Hypoparathyroidism-retardation-dysmorphism syndrome, 241410
    • KENNY-CAFFEY SYNDROME TYPE 1 (KCS1)

    Green TBCE in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Kenny-Caffey syndrome, type 1, 244460
    • Hypoparathyroidism-retardation-dysmorphism syndrome, 241410
    • Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207