TBCB

tubulin folding cofactor B
OMIM: 601303, Gene2Phenotype

2 panels

Panel	Reviews	Mode of inheritance	Details
Amber TBCB in Hereditary spastic paraplegia, childhood onset Level 2: Neurology Version 9.14 Latest signed off version: v9.7 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags watchlist founder-effect
Amber TBCB in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.31 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia, MONDO:0980706 Neurodevelopmental disorder with behavioral abnormalities and childhood onset spastic paraplegia, OMIM:621382

Panel

Reviews

Mode of inheritance

Details

Level 2: Neurology
Version 9.14
Latest signed off version: v9.7 (12 Aug 2026)

review

BIALLELIC, autosomal or pseudoautosomal

Level 2: Fetal (including NIPD)
Version 8.31
Latest signed off version: v8.0 (12 Aug 2026)

review

BIALLELIC, autosomal or pseudoautosomal

neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia, MONDO:0980706
Neurodevelopmental disorder with behavioral abnormalities and childhood onset spastic paraplegia, OMIM:621382