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| Intellectual disability - microarray and sequencing v2.969 | GRIA2 |
Catherine Snow changed review comment from: GRIA2 has been associated with ID in PMID: 31300657. The authors identified 28 unrelated individuals who had heterozygous de novo GRIA2 mutations. All individuals had experienced DD and moderate to severe ID, except 2 who had died at a young age. Epilepsy was identified in at least 10 individuals. Multiple de-novo intragenic variants including missense (n = 15), splice-site (n = 2), in-frame deletion (n = 1), stop-gain (n = 1) and frameshift (n = 2) variants were reported. In all patients with intragenic variants they were first identified by WES, WGS or massively parallel targeted sequencing and confirmed as de-novo by trio Sanger sequencing. Also a further three patients were identified with a microdeletion involving GRIA2 using micro array analysis. GRIA2 is currently not associated with a disease in OMIM or Gene2Phenotype and this is the first time that GRIA2 has been reported to be associated with ID but other AMPA receptors, GRIA3, and GRIA4 are Green on the ID panel. Therefore there is not sufficient number of unrelated individuals and evidence to make GRIA2 Green.; to: GRIA2 has been associated with ID in PMID: 31300657. The authors identified 28 unrelated individuals who had heterozygous de novo GRIA2 mutations. All individuals had experienced DD and moderate to severe ID, except 2 who had died at a young age. Epilepsy was identified in at least 10 individuals. Multiple de-novo intragenic variants including missense (n = 15), splice-site (n = 2), in-frame deletion (n = 1), stop-gain (n = 1) and frameshift (n = 2) variants were reported. In all patients with intragenic variants they were first identified by WES, WGS or massively parallel targeted sequencing and confirmed as de-novo by trio Sanger sequencing. Also a further three patients were identified with a microdeletion involving GRIA2 using micro array analysis. GRIA2 is currently not associated with a disease in OMIM or Gene2Phenotype and this is the first time that GRIA2 has been reported to be associated with ID but other AMPA receptors, GRIA3, and GRIA4 are Green on the ID panel. Therefore there is now sufficient number of unrelated individuals and evidence to make GRIA2 Green. |
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| Intellectual disability - microarray and sequencing v2.468 | GRIA4 | Louise Daugherty Source Victorian Clinical Genetics Services was added to GRIA4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.467 | GRIA4 | Louise Daugherty Classified gene: GRIA4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.467 | GRIA4 | Louise Daugherty Added comment: Comment on list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.467 | GRIA4 | Louise Daugherty Gene: gria4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.466 | GRIA4 | Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIMid | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.466 | GRIA4 | Louise Daugherty Phenotypes for gene: GRIA4 were changed from Neurodevelopmental disorder with or without seizures and gait abnormalities to Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.454 | GRIA4 | Sarah Leigh Classified gene: GRIA4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.454 | GRIA4 | Sarah Leigh Gene: gria4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.453 | GRIA4 | Sarah Leigh Classified gene: GRIA4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.453 | GRIA4 | Sarah Leigh Gene: gria4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing | GRIA4 | Zornitza Stark Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||