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| Genetic Epilepsy v0.2001 | GRIA3 | Zornitza Stark Publications for gene: GRIA3 were set to 32977175; 17989220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2000 | GRIA3 | Zornitza Stark Mode of inheritance for gene: GRIA3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1999 | GRIA3 | Zornitza Stark edited their review of gene: GRIA3: Added comment: New manuscript describing ~40 individuals with variants in GRIA3, including affected females. Some variants demonstrated to be LoF and others GoF. LoF variants generally caused a milder phenotype.; Changed publications: 32977175, 17989220, 38038360; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1056 | GRIA3 | Zornitza Stark Marked gene: GRIA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1056 | GRIA3 | Zornitza Stark Gene: gria3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1056 | GRIA3 | Zornitza Stark Classified gene: GRIA3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1056 | GRIA3 | Zornitza Stark Gene: gria3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1055 | GRIA3 |
Zornitza Stark gene: GRIA3 was added gene: GRIA3 was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: GRIA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GRIA3 were set to 32977175; 17989220 Phenotypes for gene: GRIA3 were set to Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699) Review for gene: GRIA3 was set to GREEN Added comment: PMID: 32977175;17989220: Around 20 individuals with ID reported, mostly males inherited from unaffected mother. Missense have been shown to result in either protein expression reduction or minimal or no channel current, only a couple PTC reported. ID ranges from mild to severe, epilepsy has not been reported in all patients (6/19 by PMID: 32977175), and different types of epilepsy were found. Sources: Expert Review |
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