Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.76 | RYR3 | Ida Ertmanska commented on gene: RYR3: Comment on list classification: There are numerous patients reported in literature with both mono- and bi-allelic variants in RYR3: 1 individual (PMID 29498452) was reported with a childhood-onset myopathy, 3 with syndromic contractures, and some studies report an association with congenital heart disease. There are at least 15 individuals, primarily of Chinese origin, with RYR3 variants and a developmental and epileptic encephalopathy. 4 individuals harboured heterozygous de novo variants, while 11/15 harboured biallelic RYR3 variants (primarily missense and splice). Additional variable features included developmental delay, hypotonia, dystonia, motor dyspraxia. Based on the confounding literature, a ClinGen Limited classification, limited functional evidence, and common variants being reported as causal, this gene should remain Amber, until more evidence emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.76 | RYR3 |
Ida Ertmanska changed review comment from: https://doi.org/10.1016/j.gendis.2026.102341 Xu et al., 2026 Study identified 5 individuals harboring compound heterozygous RYR3 variants, all presenting with early-onset epileptic spasms, hypsarrhythmia, dystonia, gross motor dyspraxia, and severe developmental delay. 4/5 patients developed drug-resistant epilepsy in the first year of life. Identified in a cohort of 420 patients with infantile epileptic spasm syndrome. Seq methid: Trio WES. A couple of the reported variants are fairly common and have homozygotes reported in gnomAD v4. FUNCTIONAL: The study established patient-derived induced pluripotent stem cells (iPSCs) from Proband 2 and differentiated them into cortical neurons. RYR3 H2626R/A3636G variants did not impair neural progenitor migration but caused significant neuronal developmental abnormalities, such as delayed maturation, shortened axons, and reduced branching - compared to control iPSCs from the patient’s mother (RYR3A3636G/+) and from an unrelated healthy individual (RYR3+/+). Authors highlight that the mode of inheritance is RECESSIVE. PMID: 39840699 Tian et al., 2025 Study of 410 Han Chinese patients with partial (non-lesional) epilepsy without acquired causes. Seq method: Trio WES. RYR3 variants were identified in 7 unrelated patients with idiopathic epilepsy: 1 patient with a de novo het variant c.12947A>G, p.Glu4316Gly, and 6 individuals with comp het RYR3 variants - all unique missense. In biallelic cases, parents were confirmed het and asymptomatic. PMID: 39220738 Li et al., 2025 Report of a 10-month-old female child with delayed psychomotor development and recurrent spasm-like seizures was diagnosed with infantile spasm syndrome and DEE. WES identified a het RYR3 variant: c.10943C > T, p.T3648M. PMID: 29667327 Peng et al., 2018 Study of Chinese patients with West syndrome (early infantile epileptic encephalopathy). Seq method: WES. 2 patients from family WS56 harboured biallelic RYR3 variants: c.A3716G, p.Lys1239Arg and c.C4046T, p.Thr1349Ile. PMID: 25262651 EuroEPINOMICS-RES Consortium article, 2014 Reported 2 individuals with epilepsy and 2 unique de novo variants in RYR3: c.9603_9605del (p.Ile3203del) and .14104G>A (p.Asp4702Asn), respectively. There are also 3 individuals reported with biallelic RYR3 variants and arthrogryposis (PMID: 31230720), and one with recessive congenital myopathy (PMID: 29498452). The association between RYR3 and AD genetic developmental and epileptic encephalopathy has been classified as Limited in ClinGen (Oct 2023, Epilepsy Expert Panel) - only PMID: 25262651 was scored. RYR3 is only associated with AR Congenital myopathy 20, OMIM:620310 in OMIM (accessed 3rd Sept 2026).; to: https://doi.org/10.1016/j.gendis.2026.102341 Xu et al., 2026 Study identified 5 individuals harboring compound heterozygous RYR3 variants, all presenting with early-onset epileptic spasms, hypsarrhythmia, dystonia, gross motor dyspraxia, and severe developmental delay. 4/5 patients developed drug-resistant epilepsy in the first year of life. Identified in a cohort of 420 patients with infantile epileptic spasm syndrome. Seq methid: Trio WES. A couple of the reported variants are fairly common and have homozygotes reported in gnomAD v4. FUNCTIONAL: The study established patient-derived induced pluripotent stem cells (iPSCs) from Proband 2 and differentiated them into cortical neurons. RYR3 H2626R/A3636G variants did not impair neural progenitor migration but caused significant neuronal developmental abnormalities, such as delayed maturation, shortened axons, and reduced branching - compared to control iPSCs from the patient’s mother (RYR3A3636G/+) and from an unrelated healthy individual (RYR3+/+). Authors highlight that the mode of inheritance is RECESSIVE. PMID: 39840699 Tian et al., 2025 Study of 410 Han Chinese patients with partial (non-lesional) epilepsy without acquired causes. Seq method: Trio WES. RYR3 variants were identified in 7 unrelated patients with idiopathic epilepsy: 1 patient with a de novo het variant c.12947A>G, p.Glu4316Gly, and 6 individuals with comp het RYR3 variants - all unique missense. In biallelic cases, parents were confirmed het and asymptomatic. PMID: 39220738 Li et al., 2024 Report of a 10-month-old female child with delayed psychomotor development and recurrent spasm-like seizures was diagnosed with infantile spasm syndrome and DEE. WES identified a het RYR3 variant: c.10943C > T, p.T3648M. Normal muscle strength and tone in all extremities, normal head MRI. PMID: 29667327 Peng et al., 2018 Study of Chinese patients with West syndrome (early infantile epileptic encephalopathy). Seq method: WES. 2 patients from family WS56 harboured biallelic RYR3 variants: c.A3716G, p.Lys1239Arg and c.C4046T, p.Thr1349Ile. PMID: 25262651 EuroEPINOMICS-RES Consortium article, 2014 Reported 2 individuals with epilepsy and 2 unique de novo variants in RYR3: c.9603_9605del (p.Ile3203del) and .14104G>A (p.Asp4702Asn), respectively. There are also 3 individuals reported with biallelic RYR3 variants and arthrogryposis (PMID: 31230720), and one with recessive congenital myopathy (PMID: 29498452). The association between RYR3 and AD genetic developmental and epileptic encephalopathy has been classified as Limited in ClinGen (Oct 2023, Epilepsy Expert Panel) - only PMID: 25262651 was scored. RYR3 is only associated with AR Congenital myopathy 20, OMIM:620310 in OMIM (accessed 3rd Sept 2026). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.76 | RYR3 |
Ida Ertmanska changed review comment from: https://doi.org/10.1016/j.gendis.2026.102341 Xu et al., 2026 Study identified 5 individuals harboring compound heterozygous RYR3 variants, all presenting with early-onset epileptic spasms, hypsarrhythmia, dystonia, gross motor dyspraxia, and severe developmental delay. 4/5 patients developed drug-resistant epilepsy in the first year of life. Identified in a cohort of 420 patients with infantile epileptic spasm syndrome. Seq methid: Trio WES. A couple of the reported variants are fairly common and have homozygotes reported in gnomAD v4. FUNCTIONAL: The study established patient-derived induced pluripotent stem cells (iPSCs) from Proband 2 and differentiated them into cortical neurons. RYR3 H2626R/A3636G variants did not impair neural progenitor migration but caused significant neuronal developmental abnormalities, such as delayed maturation, shortened axons, and reduced branching - compared to control iPSCs from the patient’s mother (RYR3A3636G/+) and from an unrelated healthy individual (RYR3+/+). Authors highlight that the mode of inheritance is RECESSIVE. PMID: 39840699 Tian et al., 2025 Study of 410 Han Chinese patients with partial (non-lesional) epilepsy without acquired causes. Seq method: Trio WES. RYR3 variants were identified in 7 unrelated patients with idiopathic epilepsy: 1 patient with a de novo het variant c.12947A>G, p.Glu4316Gly, and 6 individuals with comp het RYR3 variants - all unique missense. In biallelic cases, parents were confirmed het and asymptomatic. PMID: 39220738 Li et al., 2025 Report of a 10-month-old female child with delayed psychomotor development and recurrent spasm-like seizures was diagnosed with infantile spasm syndrome and DEE. WES identified a het RYR3 variant: c.10943C > T, p.T3648M. PMID: 29667327 Peng et al., 2018 Study of Chinese patients with West syndrome (early infantile epileptic encephalopathy). Seq method: WES. 2 patients from family WS56 harboured biallelic RYR3 variants: c.A3716G, p.Lys1239Arg and c.C4046T, p.Thr1349Ile. PMID: 25262651 EuroEPINOMICS-RES Consortium article, 2014 Reported 2 individuals with epilepsy and 2 unique de novo variants in RYR3: c.9603_9605del (p.Ile3203del) and .14104G>A (p.Asp4702Asn), respectively. There are also 3 individuals reported with biallelic RYR3 variants and arthrogryposis (PMID: 31230720), and one with recessive congenital myopathy (PMID: 29498452). The association between RYR3 and AD genetic developmental and epileptic encephalopathy has been classified as Limited in ClinGen (Oct 2023, Epilepsy Expert Panel) - only PMID: 25262651 was scored.; to: https://doi.org/10.1016/j.gendis.2026.102341 Xu et al., 2026 Study identified 5 individuals harboring compound heterozygous RYR3 variants, all presenting with early-onset epileptic spasms, hypsarrhythmia, dystonia, gross motor dyspraxia, and severe developmental delay. 4/5 patients developed drug-resistant epilepsy in the first year of life. Identified in a cohort of 420 patients with infantile epileptic spasm syndrome. Seq methid: Trio WES. A couple of the reported variants are fairly common and have homozygotes reported in gnomAD v4. FUNCTIONAL: The study established patient-derived induced pluripotent stem cells (iPSCs) from Proband 2 and differentiated them into cortical neurons. RYR3 H2626R/A3636G variants did not impair neural progenitor migration but caused significant neuronal developmental abnormalities, such as delayed maturation, shortened axons, and reduced branching - compared to control iPSCs from the patient’s mother (RYR3A3636G/+) and from an unrelated healthy individual (RYR3+/+). Authors highlight that the mode of inheritance is RECESSIVE. PMID: 39840699 Tian et al., 2025 Study of 410 Han Chinese patients with partial (non-lesional) epilepsy without acquired causes. Seq method: Trio WES. RYR3 variants were identified in 7 unrelated patients with idiopathic epilepsy: 1 patient with a de novo het variant c.12947A>G, p.Glu4316Gly, and 6 individuals with comp het RYR3 variants - all unique missense. In biallelic cases, parents were confirmed het and asymptomatic. PMID: 39220738 Li et al., 2025 Report of a 10-month-old female child with delayed psychomotor development and recurrent spasm-like seizures was diagnosed with infantile spasm syndrome and DEE. WES identified a het RYR3 variant: c.10943C > T, p.T3648M. PMID: 29667327 Peng et al., 2018 Study of Chinese patients with West syndrome (early infantile epileptic encephalopathy). Seq method: WES. 2 patients from family WS56 harboured biallelic RYR3 variants: c.A3716G, p.Lys1239Arg and c.C4046T, p.Thr1349Ile. PMID: 25262651 EuroEPINOMICS-RES Consortium article, 2014 Reported 2 individuals with epilepsy and 2 unique de novo variants in RYR3: c.9603_9605del (p.Ile3203del) and .14104G>A (p.Asp4702Asn), respectively. There are also 3 individuals reported with biallelic RYR3 variants and arthrogryposis (PMID: 31230720), and one with recessive congenital myopathy (PMID: 29498452). The association between RYR3 and AD genetic developmental and epileptic encephalopathy has been classified as Limited in ClinGen (Oct 2023, Epilepsy Expert Panel) - only PMID: 25262651 was scored. RYR3 is only associated with AR Congenital myopathy 20, OMIM:620310 in OMIM (accessed 3rd Sept 2026). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.76 | RYR3 |
Ida Ertmanska changed review comment from: https://doi.org/10.1016/j.gendis.2026.102341 Xu et al., 2026 Study identified 5 individuals harboring compound heterozygous RYR3 variants, all presenting with early-onset epileptic spasms, hypsarrhythmia, dystonia, gross motor dyspraxia, and severe developmental delay. 4/5 patients developed drug-resistant epilepsy in the first year of life. Identified in a cohort of 420 patients with infantile epileptic spasm syndrome. Seq methid: Trio WES. A couple of the reported variants are fairly common and have homozygotes reported in gnomAD v4. FUNCTIONAL: The study established patient-derived induced pluripotent stem cells (iPSCs) from Proband 2 and differentiated them into cortical neurons. RYR3 H2626R/A3636G variants did not impair neural progenitor migration but caused significant neuronal developmental abnormalities, such as delayed maturation, shortened axons, and reduced branching - compared to control iPSCs from the patient’s mother (RYR3A3636G/+) and from an unrelated healthy individual (RYR3+/+). Authors highlight that the mode of inheritance is RECESSIVE. PMID: 39840699 Tian et al., 2025 Study of 410 Han Chinese patients with partial (non-lesional) epilepsy without acquired causes. Seq method: Trio WES. RYR3 variants were identified in 7 unrelated patients with idiopathic epilepsy: 1 patient with a de novo het variant c.12947A>G, p.Glu4316Gly, and 6 individuals with comp het RYR3 variants - all unique missense. In biallelic cases, parents were confirmed het and asymptomatic. PMID: 39220738 Li et al., 2025 Report of a 10-month-old female child with delayed psychomotor development and recurrent spasm-like seizures was diagnosed with infantile spasm syndrome and DEE. WES identified a het RYR3 variant: c.10943C > T, p.T3648M. PMID: 29667327 Peng et al., 2018 Study of Chinese patients with West syndrome (early infantile epileptic encephalopathy). Seq method: WES. 2 patients from family WS56 harboured biallelic RYR3 variants: c.A3716G, p.Lys1239Arg and c.C4046T, p.Thr1349Ile. PMID: 25262651 EuroEPINOMICS-RES Consortium article, 2014 Reported 2 individuals with epilepsy and 2 unique de novo variants in RYR3: c.9603_9605del (p.Ile3203del) and .14104G>A (p.Asp4702Asn), respectively. The association between RYR3 and AD genetic developmental and epileptic encephalopathy has been classified as Limited in ClinGen (Oct 2023, Epilepsy Expert Panel) - only PMID: 25262651 was scored.; to: https://doi.org/10.1016/j.gendis.2026.102341 Xu et al., 2026 Study identified 5 individuals harboring compound heterozygous RYR3 variants, all presenting with early-onset epileptic spasms, hypsarrhythmia, dystonia, gross motor dyspraxia, and severe developmental delay. 4/5 patients developed drug-resistant epilepsy in the first year of life. Identified in a cohort of 420 patients with infantile epileptic spasm syndrome. Seq methid: Trio WES. A couple of the reported variants are fairly common and have homozygotes reported in gnomAD v4. FUNCTIONAL: The study established patient-derived induced pluripotent stem cells (iPSCs) from Proband 2 and differentiated them into cortical neurons. RYR3 H2626R/A3636G variants did not impair neural progenitor migration but caused significant neuronal developmental abnormalities, such as delayed maturation, shortened axons, and reduced branching - compared to control iPSCs from the patient’s mother (RYR3A3636G/+) and from an unrelated healthy individual (RYR3+/+). Authors highlight that the mode of inheritance is RECESSIVE. PMID: 39840699 Tian et al., 2025 Study of 410 Han Chinese patients with partial (non-lesional) epilepsy without acquired causes. Seq method: Trio WES. RYR3 variants were identified in 7 unrelated patients with idiopathic epilepsy: 1 patient with a de novo het variant c.12947A>G, p.Glu4316Gly, and 6 individuals with comp het RYR3 variants - all unique missense. In biallelic cases, parents were confirmed het and asymptomatic. PMID: 39220738 Li et al., 2025 Report of a 10-month-old female child with delayed psychomotor development and recurrent spasm-like seizures was diagnosed with infantile spasm syndrome and DEE. WES identified a het RYR3 variant: c.10943C > T, p.T3648M. PMID: 29667327 Peng et al., 2018 Study of Chinese patients with West syndrome (early infantile epileptic encephalopathy). Seq method: WES. 2 patients from family WS56 harboured biallelic RYR3 variants: c.A3716G, p.Lys1239Arg and c.C4046T, p.Thr1349Ile. PMID: 25262651 EuroEPINOMICS-RES Consortium article, 2014 Reported 2 individuals with epilepsy and 2 unique de novo variants in RYR3: c.9603_9605del (p.Ile3203del) and .14104G>A (p.Asp4702Asn), respectively. There are also 3 individuals reported with biallelic RYR3 variants and arthrogryposis (PMID: 31230720), and one with recessive congenital myopathy (PMID: 29498452). The association between RYR3 and AD genetic developmental and epileptic encephalopathy has been classified as Limited in ClinGen (Oct 2023, Epilepsy Expert Panel) - only PMID: 25262651 was scored. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.76 | RYR3 |
Ida Ertmanska changed review comment from: https://doi.org/10.1016/j.gendis.2026.102341 Xu et al., 2026 Study identified 5 individuals harboring compound heterozygous RYR3 variants, all presenting with early-onset epileptic spasms, hypsarrhythmia, dystonia, gross motor dyspraxia, and severe developmental delay. 4/5 patients developed drug-resistant epilepsy in the first year of life. Identified in a cohort of 420 patients with infantile epileptic spasm syndrome. Seq methid: Trio WES. FUNCTIONAL: The study established patient-derived induced pluripotent stem cells (iPSCs) from Proband 2 and differentiated them into cortical neurons. RYR3 H2626R/A3636G variants did not impair neural progenitor migration but caused significant neuronal developmental abnormalities, such as delayed maturation, shortened axons, and reduced branching - compared to control iPSCs from the patient’s mother (RYR3A3636G/+) and from an unrelated healthy individual (RYR3+/+). Authors highlight that the mode of inheritance is RECESSIVE. PMID: 39840699 Tian et al., 2025 Study of 410 Han Chinese patients with partial (non-lesional) epilepsy without acquired causes. Seq method: Trio WES. RYR3 variants were identified in 7 unrelated patients with idiopathic epilepsy: 1 patient with a de novo het variant c.12947A>G, p.Glu4316Gly, and 6 individuals with comp het RYR3 variants - all unique missense. In biallelic cases, parents were confirmed het and asymptomatic. PMID: 39220738 Li et al., 2025 Report of a 10-month-old female child with delayed psychomotor development and recurrent spasm-like seizures was diagnosed with infantile spasm syndrome and DEE. WES identified a het RYR3 variant: c.10943C > T, p.T3648M. PMID: 29667327 Peng et al., 2018 Study of Chinese patients with West syndrome (early infantile epileptic encephalopathy). Seq method: WES. 2 patients from family WS56 harboured biallelic RYR3 variants: c.A3716G, p.Lys1239Arg and c.C4046T, p.Thr1349Ile. PMID: 25262651 EuroEPINOMICS-RES Consortium article, 2014 Reported 2 individuals with epilepsy and 2 unique de novo variants in RYR3: c.9603_9605del (p.Ile3203del) and .14104G>A (p.Asp4702Asn), respectively. The association between RYR3 and AD genetic developmental and epileptic encephalopathy has been classified as Limited in ClinGen (Oct 2023, Epilepsy Expert Panel) - only PMID: 25262651 was scored.; to: https://doi.org/10.1016/j.gendis.2026.102341 Xu et al., 2026 Study identified 5 individuals harboring compound heterozygous RYR3 variants, all presenting with early-onset epileptic spasms, hypsarrhythmia, dystonia, gross motor dyspraxia, and severe developmental delay. 4/5 patients developed drug-resistant epilepsy in the first year of life. Identified in a cohort of 420 patients with infantile epileptic spasm syndrome. Seq methid: Trio WES. A couple of the reported variants are fairly common and have homozygotes reported in gnomAD v4. FUNCTIONAL: The study established patient-derived induced pluripotent stem cells (iPSCs) from Proband 2 and differentiated them into cortical neurons. RYR3 H2626R/A3636G variants did not impair neural progenitor migration but caused significant neuronal developmental abnormalities, such as delayed maturation, shortened axons, and reduced branching - compared to control iPSCs from the patient’s mother (RYR3A3636G/+) and from an unrelated healthy individual (RYR3+/+). Authors highlight that the mode of inheritance is RECESSIVE. PMID: 39840699 Tian et al., 2025 Study of 410 Han Chinese patients with partial (non-lesional) epilepsy without acquired causes. Seq method: Trio WES. RYR3 variants were identified in 7 unrelated patients with idiopathic epilepsy: 1 patient with a de novo het variant c.12947A>G, p.Glu4316Gly, and 6 individuals with comp het RYR3 variants - all unique missense. In biallelic cases, parents were confirmed het and asymptomatic. PMID: 39220738 Li et al., 2025 Report of a 10-month-old female child with delayed psychomotor development and recurrent spasm-like seizures was diagnosed with infantile spasm syndrome and DEE. WES identified a het RYR3 variant: c.10943C > T, p.T3648M. PMID: 29667327 Peng et al., 2018 Study of Chinese patients with West syndrome (early infantile epileptic encephalopathy). Seq method: WES. 2 patients from family WS56 harboured biallelic RYR3 variants: c.A3716G, p.Lys1239Arg and c.C4046T, p.Thr1349Ile. PMID: 25262651 EuroEPINOMICS-RES Consortium article, 2014 Reported 2 individuals with epilepsy and 2 unique de novo variants in RYR3: c.9603_9605del (p.Ile3203del) and .14104G>A (p.Asp4702Asn), respectively. The association between RYR3 and AD genetic developmental and epileptic encephalopathy has been classified as Limited in ClinGen (Oct 2023, Epilepsy Expert Panel) - only PMID: 25262651 was scored. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.76 | RYR3 | Ida Ertmanska edited their review of gene: RYR3: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.76 | RYR3 |
Ida Ertmanska changed review comment from: https://doi.org/10.1016/j.gendis.2026.102341 Xu et al., 2026 Study identified 5 individuals harboring compound heterozygous RYR3 variants, all presenting with early-onset epileptic spasms, hypsarrhythmia, and severe developmental delay. 4/5 patients developed drug-resistant epilepsy in the first year of life. Identified in a cohort of 420 patients with infantile epileptic spasm syndrome. Seq methid: Trio WES. FUNCTIONAL: The study established patient-derived induced pluripotent stem cells (iPSCs) from Proband 2 and differentiated them into cortical neurons. RYR3 H2626R/A3636G variants did not impair neural progenitor migration but caused significant neuronal developmental abnormalities, such as delayed maturation, shortened axons, and reduced branching - compared to control iPSCs from the patient’s mother (RYR3A3636G/+) and from an unrelated healthy individual (RYR3+/+). Authors highlight that the mode of inheritance is RECESSIVE. PMID: 39840699 Tian et al., 2025 Study of 410 Han Chinese patients with partial (non-lesional) epilepsy without acquired causes. Seq method: Trio WES. RYR3 variants were identified in 7 unrelated patients with idiopathic epilepsy: 1 patient with a de novo het variant c.12947A>G, p.Glu4316Gly, and 6 individuals with comp het RYR3 variants - all unique missense. In biallelic cases, parents were confirmed het and asymptomatic. PMID: 39220738 Li et al., 2025 Report of a 10-month-old female child with delayed psychomotor development and recurrent spasm-like seizures was diagnosed with infantile spasm syndrome and DEE. WES identified a het RYR3 variant: c.10943C > T, p.T3648M. PMID: 29667327 Peng et al., 2018 Study of Chinese patients with West syndrome (early infantile epileptic encephalopathy). Seq method: WES. 2 patients from family WS56 harboured biallelic RYR3 variants: c.A3716G, p.Lys1239Arg and c.C4046T, p.Thr1349Ile. PMID: 25262651 EuroEPINOMICS-RES Consortium article, 2014 Reported 2 individuals with epilepsy and 2 unique de novo variants in RYR3: c.9603_9605del (p.Ile3203del) and .14104G>A (p.Asp4702Asn), respectively. The association between RYR3 and AD genetic developmental and epileptic encephalopathy has been classified as Limited in ClinGen (Oct 2023, Epilepsy Expert Panel) - only PMID: 25262651 was scored.; to: https://doi.org/10.1016/j.gendis.2026.102341 Xu et al., 2026 Study identified 5 individuals harboring compound heterozygous RYR3 variants, all presenting with early-onset epileptic spasms, hypsarrhythmia, dystonia, gross motor dyspraxia, and severe developmental delay. 4/5 patients developed drug-resistant epilepsy in the first year of life. Identified in a cohort of 420 patients with infantile epileptic spasm syndrome. Seq methid: Trio WES. FUNCTIONAL: The study established patient-derived induced pluripotent stem cells (iPSCs) from Proband 2 and differentiated them into cortical neurons. RYR3 H2626R/A3636G variants did not impair neural progenitor migration but caused significant neuronal developmental abnormalities, such as delayed maturation, shortened axons, and reduced branching - compared to control iPSCs from the patient’s mother (RYR3A3636G/+) and from an unrelated healthy individual (RYR3+/+). Authors highlight that the mode of inheritance is RECESSIVE. PMID: 39840699 Tian et al., 2025 Study of 410 Han Chinese patients with partial (non-lesional) epilepsy without acquired causes. Seq method: Trio WES. RYR3 variants were identified in 7 unrelated patients with idiopathic epilepsy: 1 patient with a de novo het variant c.12947A>G, p.Glu4316Gly, and 6 individuals with comp het RYR3 variants - all unique missense. In biallelic cases, parents were confirmed het and asymptomatic. PMID: 39220738 Li et al., 2025 Report of a 10-month-old female child with delayed psychomotor development and recurrent spasm-like seizures was diagnosed with infantile spasm syndrome and DEE. WES identified a het RYR3 variant: c.10943C > T, p.T3648M. PMID: 29667327 Peng et al., 2018 Study of Chinese patients with West syndrome (early infantile epileptic encephalopathy). Seq method: WES. 2 patients from family WS56 harboured biallelic RYR3 variants: c.A3716G, p.Lys1239Arg and c.C4046T, p.Thr1349Ile. PMID: 25262651 EuroEPINOMICS-RES Consortium article, 2014 Reported 2 individuals with epilepsy and 2 unique de novo variants in RYR3: c.9603_9605del (p.Ile3203del) and .14104G>A (p.Asp4702Asn), respectively. The association between RYR3 and AD genetic developmental and epileptic encephalopathy has been classified as Limited in ClinGen (Oct 2023, Epilepsy Expert Panel) - only PMID: 25262651 was scored. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.76 | RYR3 | Ida Ertmanska edited their review of gene: RYR3: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.76 | RYR3 | Ida Ertmanska edited their review of gene: RYR3: Changed publications to: 25262651, 29667327, 39220738, 39840699, https://doi.org/10.1016/j.gendis.2026.102341 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.76 | RYR3 |
Ida Ertmanska changed review comment from: https://doi.org/10.1016/j.gendis.2026.102341 Xu et al., 2026 Study identified 5 individuals harboring compound heterozygous RYR3 variants, all presenting with early-onset epileptic spasms, hypsarrhythmia, and severe developmental delay. 4/5 patients developed drug-resistant epilepsy in the first year of life. Identified in a cohort of 420 patients with infantile epileptic spasm syndrome. Seq methid: Trio WES. FUNCTIONAL: The study established patient-derived induced pluripotent stem cells (iPSCs) from Proband 2 and differentiated them into cortical neurons. RYR3 H2626R/A3636G variants did not impair neural progenitor migration but caused significant neuronal developmental abnormalities, such as delayed maturation, shortened axons, and reduced branching - compared to control iPSCs from the patient’s mother (RYR3A3636G/+) and from an unrelated healthy individual (RYR3+/+). Authors highlight that the mode of inheritance is RECESSIVE. PMID: 39840699 Tian et al., 2025 Study of 410 Han Chinese patients with partial (non-lesional) epilepsy without acquired causes. Seq method: Trio WES. RYR3 variants were identified in 7 unrelated patients with idiopathic epilepsy: 1 patient with a de novo het variant c.12947A>G, p.Glu4316Gly, and 6 individuals with comp het RYR3 variants - all unique missense. In biallelic cases, parents were confirmed het and asymptomatic. PMID: 39220738 Li et al., 2025 Report of a 10-month-old female child with delayed psychomotor development and recurrent spasm-like seizures was diagnosed with infantile spasm syndrome and DEE. WES identified a het RYR3 variant: c.10943C > T, p.T3648M. PMID: 25262651 EuroEPINOMICS-RES Consortium article, 2014 Reported 2 individuals with epilepsy and 2 unique de novo variants in RYR3: c.9603_9605del (p.Ile3203del) and .14104G>A (p.Asp4702Asn), respectively. The association between RYR3 and AD genetic developmental and epileptic encephalopathy has been classified as Limited in ClinGen (Oct 2023, Epilepsy Expert Panel) - only PMID: 25262651 was scored.; to: https://doi.org/10.1016/j.gendis.2026.102341 Xu et al., 2026 Study identified 5 individuals harboring compound heterozygous RYR3 variants, all presenting with early-onset epileptic spasms, hypsarrhythmia, and severe developmental delay. 4/5 patients developed drug-resistant epilepsy in the first year of life. Identified in a cohort of 420 patients with infantile epileptic spasm syndrome. Seq methid: Trio WES. FUNCTIONAL: The study established patient-derived induced pluripotent stem cells (iPSCs) from Proband 2 and differentiated them into cortical neurons. RYR3 H2626R/A3636G variants did not impair neural progenitor migration but caused significant neuronal developmental abnormalities, such as delayed maturation, shortened axons, and reduced branching - compared to control iPSCs from the patient’s mother (RYR3A3636G/+) and from an unrelated healthy individual (RYR3+/+). Authors highlight that the mode of inheritance is RECESSIVE. PMID: 39840699 Tian et al., 2025 Study of 410 Han Chinese patients with partial (non-lesional) epilepsy without acquired causes. Seq method: Trio WES. RYR3 variants were identified in 7 unrelated patients with idiopathic epilepsy: 1 patient with a de novo het variant c.12947A>G, p.Glu4316Gly, and 6 individuals with comp het RYR3 variants - all unique missense. In biallelic cases, parents were confirmed het and asymptomatic. PMID: 39220738 Li et al., 2025 Report of a 10-month-old female child with delayed psychomotor development and recurrent spasm-like seizures was diagnosed with infantile spasm syndrome and DEE. WES identified a het RYR3 variant: c.10943C > T, p.T3648M. PMID: 29667327 Peng et al., 2018 Study of Chinese patients with West syndrome (early infantile epileptic encephalopathy). Seq method: WES. 2 patients from family WS56 harboured biallelic RYR3 variants: c.A3716G, p.Lys1239Arg and c.C4046T, p.Thr1349Ile. PMID: 25262651 EuroEPINOMICS-RES Consortium article, 2014 Reported 2 individuals with epilepsy and 2 unique de novo variants in RYR3: c.9603_9605del (p.Ile3203del) and .14104G>A (p.Asp4702Asn), respectively. The association between RYR3 and AD genetic developmental and epileptic encephalopathy has been classified as Limited in ClinGen (Oct 2023, Epilepsy Expert Panel) - only PMID: 25262651 was scored. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.76 | RYR3 |
Ida Ertmanska changed review comment from: https://doi.org/10.1016/j.gendis.2026.102341 Xu et al., 2026 Study identified 5 individuals harboring compound heterozygous RYR3 variants, all presenting with early-onset epileptic spasms, hypsarrhythmia, and severe developmental delay. 4/5 patients developed drug-resistant epilepsy in the first year of life. Identified in a cohort of 420 patients with infantile epileptic spasm syndrome. Seq methid: Trio WES. FUNCTIONAL: The study established patient-derived induced pluripotent stem cells (iPSCs) from Proband 2 and differentiated them into cortical neurons. RYR3 H2626R/A3636G variants did not impair neural progenitor migration but caused significant neuronal developmental abnormalities, such as delayed maturation, shortened axons, and reduced branching - compared to control iPSCs from the patient’s mother (RYR3A3636G/+) and from an unrelated healthy individual (RYR3+/+). PMID: 39840699 Tian et al., 2025 Study of 410 Han Chinese patients with partial (non-lesional) epilepsy without acquired causes. Seq method: Trio WES. RYR3 variants were identified in 7 unrelated patients with idiopathic epilepsy: 1 patient with a de novo het variant c.12947A>G, p.Glu4316Gly, and 6 individuals with comp het RYR3 variants - all unique missense. In biallelic cases, parents were confirmed het and asymptomatic. PMID: 39220738 Li et al., 2025 Report of a 10-month-old female child with delayed psychomotor development and recurrent spasm-like seizures was diagnosed with infantile spasm syndrome and DEE. WES identified a het RYR3 variant: c.10943C > T, p.T3648M. PMID: 25262651 EuroEPINOMICS-RES Consortium article, 2014 Reported 2 individuals with epilepsy and 2 unique de novo variants in RYR3: c.9603_9605del (p.Ile3203del) and .14104G>A (p.Asp4702Asn), respectively. The association between RYR3 and AD genetic developmental and epileptic encephalopathy has been classified as Limited in ClinGen (Oct 2023, Epilepsy Expert Panel) - only PMID: 25262651 was scored.; to: https://doi.org/10.1016/j.gendis.2026.102341 Xu et al., 2026 Study identified 5 individuals harboring compound heterozygous RYR3 variants, all presenting with early-onset epileptic spasms, hypsarrhythmia, and severe developmental delay. 4/5 patients developed drug-resistant epilepsy in the first year of life. Identified in a cohort of 420 patients with infantile epileptic spasm syndrome. Seq methid: Trio WES. FUNCTIONAL: The study established patient-derived induced pluripotent stem cells (iPSCs) from Proband 2 and differentiated them into cortical neurons. RYR3 H2626R/A3636G variants did not impair neural progenitor migration but caused significant neuronal developmental abnormalities, such as delayed maturation, shortened axons, and reduced branching - compared to control iPSCs from the patient’s mother (RYR3A3636G/+) and from an unrelated healthy individual (RYR3+/+). Authors highlight that the mode of inheritance is RECESSIVE. PMID: 39840699 Tian et al., 2025 Study of 410 Han Chinese patients with partial (non-lesional) epilepsy without acquired causes. Seq method: Trio WES. RYR3 variants were identified in 7 unrelated patients with idiopathic epilepsy: 1 patient with a de novo het variant c.12947A>G, p.Glu4316Gly, and 6 individuals with comp het RYR3 variants - all unique missense. In biallelic cases, parents were confirmed het and asymptomatic. PMID: 39220738 Li et al., 2025 Report of a 10-month-old female child with delayed psychomotor development and recurrent spasm-like seizures was diagnosed with infantile spasm syndrome and DEE. WES identified a het RYR3 variant: c.10943C > T, p.T3648M. PMID: 25262651 EuroEPINOMICS-RES Consortium article, 2014 Reported 2 individuals with epilepsy and 2 unique de novo variants in RYR3: c.9603_9605del (p.Ile3203del) and .14104G>A (p.Asp4702Asn), respectively. The association between RYR3 and AD genetic developmental and epileptic encephalopathy has been classified as Limited in ClinGen (Oct 2023, Epilepsy Expert Panel) - only PMID: 25262651 was scored. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.76 | RYR3 | Ida Ertmanska edited their review of gene: RYR3: Changed publications to: 25262651, 39220738, 39840699, https://doi.org/10.1016/j.gendis.2026.102341 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.76 | RYR3 |
Ida Ertmanska changed review comment from: PMID: 39840699 Tian et al., 2025 Study of 410 Han Chinese patients with partial (non-lesional) epilepsy without acquired causes. Seq method: Trio WES. RYR3 variants were identified in 7 unrelated patients with idiopathic epilepsy: 1 patient with a de novo het variant c.12947A>G, p.Glu4316Gly, and 6 individuals with comp het RYR3 variants - all unique missense. In biallelic cases, parents were confirmed het and asymptomatic. PMID: 39220738 Li et al., 2025 Report of a 10-month-old female child with delayed psychomotor development and recurrent spasm-like seizures was diagnosed with infantile spasm syndrome and DEE. WES identified a het RYR3 variant: c.10943C > T, p.T3648M. PMID: 25262651 EuroEPINOMICS-RES Consortium article, 2014 Reported 2 individuals with epilepsy and 2 unique de novo variants in RYR3: c.9603_9605del (p.Ile3203del) and .14104G>A (p.Asp4702Asn), respectively. The association between RYR3 and AD genetic developmental and epileptic encephalopathy has been classified as Limited in ClinGen (Oct 2023, Epilepsy Expert Panel) - only PMID: 25262651 was scored.; to: https://doi.org/10.1016/j.gendis.2026.102341 Xu et al., 2026 Study identified 5 individuals harboring compound heterozygous RYR3 variants, all presenting with early-onset epileptic spasms, hypsarrhythmia, and severe developmental delay. 4/5 patients developed drug-resistant epilepsy in the first year of life. Identified in a cohort of 420 patients with infantile epileptic spasm syndrome. Seq methid: Trio WES. FUNCTIONAL: The study established patient-derived induced pluripotent stem cells (iPSCs) from Proband 2 and differentiated them into cortical neurons. RYR3 H2626R/A3636G variants did not impair neural progenitor migration but caused significant neuronal developmental abnormalities, such as delayed maturation, shortened axons, and reduced branching - compared to control iPSCs from the patient’s mother (RYR3A3636G/+) and from an unrelated healthy individual (RYR3+/+). PMID: 39840699 Tian et al., 2025 Study of 410 Han Chinese patients with partial (non-lesional) epilepsy without acquired causes. Seq method: Trio WES. RYR3 variants were identified in 7 unrelated patients with idiopathic epilepsy: 1 patient with a de novo het variant c.12947A>G, p.Glu4316Gly, and 6 individuals with comp het RYR3 variants - all unique missense. In biallelic cases, parents were confirmed het and asymptomatic. PMID: 39220738 Li et al., 2025 Report of a 10-month-old female child with delayed psychomotor development and recurrent spasm-like seizures was diagnosed with infantile spasm syndrome and DEE. WES identified a het RYR3 variant: c.10943C > T, p.T3648M. PMID: 25262651 EuroEPINOMICS-RES Consortium article, 2014 Reported 2 individuals with epilepsy and 2 unique de novo variants in RYR3: c.9603_9605del (p.Ile3203del) and .14104G>A (p.Asp4702Asn), respectively. The association between RYR3 and AD genetic developmental and epileptic encephalopathy has been classified as Limited in ClinGen (Oct 2023, Epilepsy Expert Panel) - only PMID: 25262651 was scored. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.76 | RYR3 | Ida Ertmanska edited their review of gene: RYR3: Changed publications to: 25262651, 39220738, 39840699 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.76 | RYR3 |
Ida Ertmanska changed review comment from: PMID: 39840699 Tian et al., 2025 Study of 410 Han Chinese patients with partial (non-lesional) epilepsy without acquired causes. Seq method: Trio WES. RYR3 variants were identified in 7 unrelated patients with idiopathic epilepsy: 1 patient with a de novo het variant c.12947A>G, p.Glu4316Gly, and 6 individuals with comp het RYR3 variants - all unique missense. In biallelic cases, parents were confirmed het and asymptomatic. PMID: 39220738 Li et al., 2025 Report of a 10-month-old female child with delayed psychomotor development and recurrent spasm-like seizures was diagnosed with infantile spasm syndrome and DEE. WES identified a het RYR3 variant: c.10943C > T, p.T3648M. The association between RYR3 and AD genetic developmental and epileptic encephalopathy has been classified as Limited in ClinGen (Oct 2023, Epilepsy Expert Panel) - only PMID: 25262651 was scored.; to: PMID: 39840699 Tian et al., 2025 Study of 410 Han Chinese patients with partial (non-lesional) epilepsy without acquired causes. Seq method: Trio WES. RYR3 variants were identified in 7 unrelated patients with idiopathic epilepsy: 1 patient with a de novo het variant c.12947A>G, p.Glu4316Gly, and 6 individuals with comp het RYR3 variants - all unique missense. In biallelic cases, parents were confirmed het and asymptomatic. PMID: 39220738 Li et al., 2025 Report of a 10-month-old female child with delayed psychomotor development and recurrent spasm-like seizures was diagnosed with infantile spasm syndrome and DEE. WES identified a het RYR3 variant: c.10943C > T, p.T3648M. PMID: 25262651 EuroEPINOMICS-RES Consortium article, 2014 Reported 2 individuals with epilepsy and 2 unique de novo variants in RYR3: c.9603_9605del (p.Ile3203del) and .14104G>A (p.Asp4702Asn), respectively. The association between RYR3 and AD genetic developmental and epileptic encephalopathy has been classified as Limited in ClinGen (Oct 2023, Epilepsy Expert Panel) - only PMID: 25262651 was scored. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.76 | RYR3 | Ida Ertmanska reviewed gene: RYR3: Rating: AMBER; Mode of pathogenicity: None; Publications: 39220738, 39840699; Phenotypes: developmental and epileptic encephalopathy, MONDO:0100620; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.139 | RYR3 | Arina Puzriakova Tag Q1_25_ promote_green was removed from gene: RYR3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.137 | RYR3 | Achchuthan Shanmugasundram edited their review of gene: RYR3: Added comment: Additional comments from reviewing GLHs: Insufficient evidence to prove a monogenic cause of epilepsy. Larger cohort size analysis required to conclusively prove this gene / variants in this gene could act as a susceptibility gene for idiopathic partial epilepsy.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.134 | RYR3 | Achchuthan Shanmugasundram commented on gene: RYR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.70 | RYR3 | Sarah Leigh Added comment: Comment on publications: PMID: 39220738 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.70 | RYR3 | Sarah Leigh Publications for gene: RYR3 were set to 25262651; 29667327; 29498452; 31230720; 39220738; 39840699 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.69 | RYR3 | Sarah Leigh Phenotypes for gene: RYR3 were changed from Epileptic encephalopathy to idiopathic(non-lesional) partial epilepsy/susceptibility of seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.68 | RYR3 | Sarah Leigh edited their review of gene: RYR3: Changed phenotypes to: idiopathic(non-lesional) partial epilepsy/susceptibility of seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.68 | RYR3 | Sarah Leigh Classified gene: RYR3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.68 | RYR3 | Sarah Leigh Gene: ryr3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.67 | RYR3 | Sarah Leigh Tag Q1_25_ promote_green tag was added to gene: RYR3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.67 | RYR3 | Sarah Leigh edited their review of gene: RYR3: Added comment: Previously there have been four reports of seizures in patients with biallelic RYR3 variants (PMID: 25262651; 29667327; 39220738). Using a cohort of patients with idiopathic(non-lesional) partial epilepsy/susceptibility of seizures, authors of PMID: 39840699 report thirteen RYR3 variants in seven cases. In all but one of the cases, the variants are compound heterozygotes, with the remaining case having a de novo heterozygous RYR3 variant. Seizure onset was in childhood (1 to 7 years), brain MRIs were normal in all cases, there was no evidence of myopathy and there was a single case of intellectual disability (table 1, PMID: 39840699).; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.67 | RYR3 | Sarah Leigh Publications for gene: RYR3 were set to 25262651; 29667327; 39220738; 39840699 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.66 | RYR3 | Sarah Leigh Publications for gene: RYR3 were set to 25262651; 29667327 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.191 | RYR3 | Rebecca Foulger Source Wessex and West Midlands GLH was added to RYR3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.190 | RYR3 | Rebecca Foulger Source NHS GMS was added to RYR3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.189 | RYR3 | Rebecca Foulger reviewed gene: RYR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.188 | RYR3 | Tracy Lester reviewed gene: RYR3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Unkown; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.661 | RYR3 | Sarah Leigh Marked gene: RYR3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.661 | RYR3 | Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM (lasted edited 01/25/2005) or in Gen2Phen. Four variants reported in four cases, but with little supportive evidence for association with Epileptic encephalopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.661 | RYR3 | Sarah Leigh Gene: ryr3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.661 | RYR3 | Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on report in PMID 29667327 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.661 | RYR3 | Sarah Leigh Mode of inheritance for gene: RYR3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.660 | RYR3 | Sarah Leigh Phenotypes for gene: RYR3 were changed from to Epileptic encephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.659 | RYR3 | Sarah Leigh Publications for gene: RYR3 were set to 25262651 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.638 | RYR3 | Sarah Leigh Publications for gene: RYR3 were set to EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy | RYR3 | Sarah Leigh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||