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| Genetic Epilepsy v0.1864 | STXBP1 | Michelle Torres reviewed gene: STXBP1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 31855252; Phenotypes: Developmental and epileptic encephalopathy 4, MIM# 612164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.894 | STXBP1 | Zornitza Stark Phenotypes for gene: STXBP1 were changed from Epileptic encephalopathy, early infantile, 4, MIM#612164 to Developmental and epileptic encephalopathy 4, MIM# 612164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.893 | STXBP1 | Zornitza Stark edited their review of gene: STXBP1: Changed phenotypes: Developmental and epileptic encephalopathy 4, MIM# 612164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.122 | STXBP1 | Zornitza Stark Marked gene: STXBP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.122 | STXBP1 | Zornitza Stark Gene: stxbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.122 | STXBP1 | Zornitza Stark Publications for gene: STXBP1 were set to 31855252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.121 | STXBP1 | Zornitza Stark Phenotypes for gene: STXBP1 were changed from to Epileptic encephalopathy, early infantile, 4, MIM#612164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.120 | STXBP1 | Zornitza Stark Publications for gene: STXBP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.119 | STXBP1 | Zornitza Stark Mode of pathogenicity for gene: STXBP1 was changed from Other to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.118 | STXBP1 | Zornitza Stark Mode of pathogenicity for gene: STXBP1 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.117 | STXBP1 | Zornitza Stark Mode of inheritance for gene: STXBP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.117 | STXBP1 | Zornitza Stark Mode of inheritance for gene: STXBP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.116 | STXBP1 | Zornitza Stark reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 31855252; Phenotypes: Epileptic encephalopathy, early infantile, 4, MIM#612164; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.41 | CSNK1E |
Zornitza Stark gene: CSNK1E was added gene: CSNK1E was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature Mode of inheritance for gene: CSNK1E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CSNK1E were set to 30488659 Phenotypes for gene: CSNK1E were set to Epileptic encephalopathy Review for gene: CSNK1E was set to RED Added comment: De novo splicing variant reported but in conjunction with STXBP1 variants; authors postulate it may contribute to susceptibility. Also reports linking variants in this gene to psychiatric disorders. Sources: Literature |
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| Genetic Epilepsy v0.0 | STXBP1 |
Zornitza Stark gene: STXBP1 was added gene: STXBP1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STXBP1 was set to Unknown |
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