Autism
Gene: UNC13ATotal 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 autismCreated: 18 May 2023, 12:43 a.m. | Last Modified: 18 May 2023, 12:43 a.m.
Panel Version: 0.188
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
Gene: unc13a has been classified as Red List (Low Evidence).
Phenotypes for gene: UNC13A were changed from to Congenital myasthenia; dyskinesia; autism; developmental delay
Publications for gene: UNC13A were set to
Mode of inheritance for gene: UNC13A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: unc13a has been classified as Red List (Low Evidence).
gene: UNC13A was added gene: UNC13A was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: UNC13A was set to Unknown