Autism

Gene: UNC13A

Total of 3 probands with de novo Pro814Leu, however autism only reported in 1

Clinvar (believed to be a different proband reported in Lipstein 2017 in whom regression was never observed) :
Delayed speech and language development, Cerebellar ataxia, Tremor, Febrile seizure (within the age range of 3 months to 6 years), Developmental regression

VCGS internal cohort:
GDD, speech apraxia, febrile seizures, tremor, aortic root aneurysm, dilatation of the renal pelvis and Arnold-Chiari type I malformation

Lipstein 2017:
abnormal movements, developmental delay and autism

Created: 18 May 2023, 12:43 a.m. | Last Modified: 18 May 2023, 12:43 a.m.

Panel Version: 0.188

Red List (low evidence)

One individual described with biallelic variants in this gene and a myasthenic syndrome; another individual reported with de novo variant in this gene and a different neurological phenotype (abnormal movements, developmental delay and autism).

Created: 12 Feb 2020, 3:54 a.m. | Last Modified: 12 Feb 2020, 3:54 a.m.

Panel Version: 0.63

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenia; dyskinesia; autism; developmental delay

Publications

• 27648472
• 28192369