TBCB

tubulin folding cofactor B
OMIM: 601303, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber TBCB in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.233	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 1.3793	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 0.575	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 1.496	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 0.334 Component of the following Super Panels: Leukodystrophy_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
Amber TBCB in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 1.129 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