UNC13A

unc-13 homolog A

3 disorders 2 untyped 1 no genetic record 19p13.11 gene with protein product

HGNC:23150 Monarch NCBI Gene 23025 ENSG00000130477 UniProt Q9UPW8 OMIM 609894

Aliases: KIAA1032, Munc13-1.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
UNC13A-Related Congenital NDD with Epilepsy	untyped Loss-of-Function Mutations germline	diagnosis: UNC13A Biallelic Molecular Diagnosis discussion: (unnamed)
UNC13A-Related NDD with Seizures and Movement Disorder	untyped Gain-of-Function and Dysregulatory Missense Variants de novo	diagnosis: UNC13A Molecular Diagnosis and Subtype Classification discussion: (unnamed)
Amyotrophic Lateral Sclerosis	no genetic record	mechanism: TDP-43-Dependent Cryptic Exon Misprocessing

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
neurodevelopmental disorder with hypotonia, epilepsy, and absent speech MONDO:0980940	AR	Definitive 2026-04-17	UNC13A-Related Congenital NDD with Epilepsy untyped
neurodevelopmental disorder with speech delay, movement abnormalities, and seizures MONDO:0980941	AD	Definitive 2026-04-17	UNC13A-Related NDD with Seizures and Movement Disorder untyped

Mechanism modules · computed from kb/

tdp43_proteinopathy via Amyotrophic Lateral Sclerosis named in the module itself

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.