Details of Disease | DrugMAP

General Information of Disease (ID: DISB3627)

Disease Name	Tubulinopathy
Definition	A nervous system disorder characterized by complex cortical malformations including in most cases dysmorphic basal ganglia and/or corpus callosum in which the cause of the disease is a variation in a tubulin gene.
Disease Hierarchy	DISCFBRD: Neurological disorder DISB3627: Tubulinopathy

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TUBA1A	OTDVFXEQ	Definitive	Autosomal dominant	[1]
TUBB2A	OTTV8N39	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TUBB2A	TTJ2PTI	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.