TBCB

tubulin folding cofactor B
OMIM: 601303, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber TBCB in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.241

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 1.4215

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 0.588

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 1.638

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


Level 2: Neurology and neurodevelopmental disorders
Version 0.392

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 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 Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.139

    Component of the following Super Panels:

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