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| Genetic Epilepsy v1.244 | RYR3 | Bryony Thompson Publications for gene: RYR3 were set to 25262651 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.243 | RYR3 | Bryony Thompson Classified gene: RYR3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.243 | RYR3 | Bryony Thompson Gene: ryr3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.242 | RYR3 |
Bryony Thompson edited their review of gene: RYR3: Added comment: Epilepsy - mild to severe phenotypes reported with both de novo heterozygous (3) and biallelic (7). However, no supporting functional evidence for a gene-disease association PMID: 39840699 Families: 7 families (7 unrelated) Patients: 7 patients Phenotype: partial seizures, febrile seizures, normal brain MRI Mode of inheritance: Monoallelic and biallelic (1 de novo heterozygous; 6 compound heterozygous inherited from asymptomatic parents) Variants: c.12947A>G (missense); c.2747A>C (missense); c.12514G>A (missense); c.3697G>A (missense); c.9994A>G (missense); c.4936G>A (missense); c.10859G>T (missense); c.9917A>G (missense); c.12463G>A (missense); c.11386G>C (missense); c.13690G>C (missense); c.11798C>G (missense); c.13363G>A (missense) Population Frequency: gnomAD: 0–0.00022 (overall); up to 0.0031 in East Asian controls Functional: protein modeling (I‑TASSER, PyMOL) and stability predictions (I‑Mutant) PMID: 39220738, 25262651, 29667327 Families: 4 families (4 unrelated) Patients: 4 patients Phenotype: infantile spasm syndrome, developmental regression, multifocal EEG discharges, intractable seizures Mode of inheritance: Monoallelic (de novo heterozygous; also 1 AR compound heterozygote reported); Changed publications: 25262651, 39840699, 39220738, 29667327; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Genetic Epilepsy v1.111 | RYR3 | Zornitza Stark Phenotypes for gene: RYR3 were changed from undetermined early-onset epileptic encephalopathy (MONDO:0018614) to Developmental and epileptic encephalopathy MONDO:0100062, RYR3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.110 | RYR3 | Zornitza Stark Classified gene: RYR3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.110 | RYR3 | Zornitza Stark Gene: ryr3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.109 | RYR3 | Zornitza Stark edited their review of gene: RYR3: Added comment: LIMITED by ClinGEN for epilepsy.; Changed rating: RED; Changed phenotypes: Developmental and epileptic encephalopathy MONDO:0100062, RYR3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1389 | RYR3 | Zornitza Stark Marked gene: RYR3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1389 | RYR3 | Zornitza Stark Gene: ryr3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1388 | RYR3 | Bryony Thompson Classified gene: RYR3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1388 | RYR3 | Bryony Thompson Gene: ryr3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1387 | RYR3 |
Bryony Thompson gene: RYR3 was added gene: RYR3 was added to Genetic Epilepsy. Sources: ClinGen Mode of inheritance for gene: RYR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RYR3 were set to 25262651 Phenotypes for gene: RYR3 were set to undetermined early-onset epileptic encephalopathy (MONDO:0018614) Review for gene: RYR3 was set to AMBER Added comment: 2 probands with different de novo missense variants in a single publication. Classified as Limited by ClinGen Epilepsy GCEP - Classification - 06/19/2018. Sources: ClinGen |
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