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| Genetic Epilepsy v1.332 | UNC13A | Zornitza Stark Phenotypes for gene: UNC13A were changed from Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455; Intellectual development disorder with seizures and dysmorphic facies, MIM# 621457 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.331 | UNC13A | Zornitza Stark edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455, Intellectual development disorder with seizures and dysmorphic facies, MIM# 621457 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.331 | UNC13A | Zornitza Stark Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.330 | UNC13A | Zornitza Stark edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.330 | UNC13A | Zornitza Stark Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related to neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.329 | UNC13A | Zornitza Stark Publications for gene: UNC13A were set to 28192369 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.328 | UNC13A | Zornitza Stark Mode of inheritance for gene: UNC13A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.327 | Zornitza Stark Added reviews for gene UNC13A from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1851 | UNC13A | Ain Roesley Marked gene: UNC13A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1851 | UNC13A | Ain Roesley Gene: unc13a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1851 | UNC13A | Ain Roesley Classified gene: UNC13A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1851 | UNC13A | Ain Roesley Gene: unc13a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1850 | UNC13A |
Ain Roesley gene: UNC13A was added gene: UNC13A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: UNC13A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UNC13A were set to 28192369 Phenotypes for gene: UNC13A were set to neurodevelopmental disorder MONDO#0700092, UNC13A-related Penetrance for gene: UNC13A were set to Complete Review for gene: UNC13A was set to GREEN gene: UNC13A was marked as current diagnostic Added comment: Total of 3 probands with de novo Pro814Leu 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 Sources: Literature |
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