TBCB:Ensemblv115

tubulin folding cofactor B
OMIM: 601303, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber TBCB in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Amber TBCB in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
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 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
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 2.0

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