TBCB

tubulin folding cofactor B
OMIM: 601303, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber TBCB in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.224

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with behavioral abnormalities and childhood onset spastic paraplegia, MIM# 621382

Amber TBCB in Mendeliome


Version 1.3470

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with behavioral abnormalities and childhood onset spastic paraplegia, MIM# 621382

Amber TBCB in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.563

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382

Amber TBCB in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.388

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382

Amber TBCB in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 0.333

Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • 4 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382

    Amber TBCB in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.102

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 6 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382