Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.81 | RYR3 | Ida Ertmanska changed review comment from: Comment on list classification: There are numerous patients reported in literature with both mono- and bi-allelic variants in RYR3. However, only 1 individual (PMID 29498452) was reported with a childhood-onset myopathy, confirmed by biopsy and EMG. Other patients presented with developmental and epileptic encephalopathy, with additional features of hypotonia, dystonia, motor dyspraxia. RYR3 has also been implicated in congenital heart disease. Based on the confounding literature, a ClinGen Disputed classification, and no functional evidence to support this association, this gene should be demoted to Red, until more evidence emerges. As this is a proposed demotion of a Green gene, an expert-review tag was added.; to: Comment on list classification: There are numerous patients reported in literature with both mono- and bi-allelic variants in RYR3. However, only 1 individual (PMID 29498452) was reported with a childhood-onset myopathy, confirmed by biopsy and EMG. Other patients presented with developmental and epileptic encephalopathy, sometimes with additional features of hypotonia, dystonia, motor dyspraxia. RYR3 has also been implicated in congenital heart disease. Based on the confounding literature, a ClinGen Disputed classification, and no functional evidence to support this association, this gene should be demoted to Red, until more evidence emerges. As this is a proposed demotion of a Green gene, an expert-review tag was added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.81 | RYR3 | Ida Ertmanska changed review comment from: Comment on list classification: There are numerous patients reported in literature with both mono- and bi-allelic variants in RYR3. However, only 1 individual (PMID 29498452) was reported with a childhood-onset myopathy, confirmed by biopsy and EMG. Other patients presented with developmental and epileptic encephalopathy, with additional features of hypotonia, dystonia, motor dyspraxia. RYR3 has also been implicated in congenital heart disease. Based on the confounding literature, a ClinGen Disputed classification, and no functional evidence to support this association, this gene should be demoted to Red, until more evidence emerges. As this is a demotion of a Green gene, an expert-review tag was added.; to: Comment on list classification: There are numerous patients reported in literature with both mono- and bi-allelic variants in RYR3. However, only 1 individual (PMID 29498452) was reported with a childhood-onset myopathy, confirmed by biopsy and EMG. Other patients presented with developmental and epileptic encephalopathy, with additional features of hypotonia, dystonia, motor dyspraxia. RYR3 has also been implicated in congenital heart disease. Based on the confounding literature, a ClinGen Disputed classification, and no functional evidence to support this association, this gene should be demoted to Red, until more evidence emerges. As this is a proposed demotion of a Green gene, an expert-review tag was added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.81 | RYR3 | Ida Ertmanska Publications for gene: RYR3 were set to 29498452 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.80 | RYR3 |
Ida Ertmanska Tag Q3_26_expert_review tag was added to gene: RYR3. Tag Q3_26_demote_red tag was added to gene: RYR3. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.80 | RYR3 | Ida Ertmanska changed review comment from: Comment on list classification: There are numerous patients reported in literature with both mono- and bi-allelic variants in RYR3. However, only 1 individual (PMID 29498452) was reported with a childhood-onset myopathy, confirmed by biopsy and EMG. Other patients presented with developmental and epileptic encephalopathy, with additional features of hypotonia, dystonia, motor dyspraxia. RYR3 has also been implicated in congenital heart disease. Based on the confounding literature, a ClinGen Disputed classification, and no functional evidence to support this association, this gene should be demoted to Red, until more evidence emerges.; to: Comment on list classification: There are numerous patients reported in literature with both mono- and bi-allelic variants in RYR3. However, only 1 individual (PMID 29498452) was reported with a childhood-onset myopathy, confirmed by biopsy and EMG. Other patients presented with developmental and epileptic encephalopathy, with additional features of hypotonia, dystonia, motor dyspraxia. RYR3 has also been implicated in congenital heart disease. Based on the confounding literature, a ClinGen Disputed classification, and no functional evidence to support this association, this gene should be demoted to Red, until more evidence emerges. As this is a demotion of a Green gene, an expert-review tag was added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.80 | 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. However, only 1 individual (PMID 29498452) was reported with a childhood-onset myopathy, confirmed by biopsy and EMG. Other patients presented with developmental and epileptic encephalopathy, with additional features of hypotonia, dystonia, motor dyspraxia. RYR3 has also been implicated in congenital heart disease. Based on the confounding literature, a ClinGen Disputed classification, and no functional evidence to support this association, this gene should be demoted to Red, until more evidence emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.80 | RYR3 |
Ida Ertmanska changed review comment from: PMID 29498452 Nilipour et al., 2018 Reported a 22yo female individual with nemaline myopathy and harboring two unique RYR3 missense variants. She presented at 5yo with muscle weakness. At 22yo she had facial weakness, mild scapular winging, proximal limb weakness, high arched palate, and micrognathia. Muscle strength was 4/5 and 5/5 in the limbs. EMG showed myopathic potentials. Muscle biopsy showed features consistent with nemaline myopathy. WES identified comp het variants in RYR3: c.6208A>G, p.Met2070Val (MAF = 0.0007467 in gnomAD v4, no hmz) & c.8939G>T, p.Arg2980Leu (MAF=0.001644 in gnomAD v4, no hmz). Variants confirmed in trans, het parents unaffected. PMID: 31230720 Pehlivan et al., 2019 Reported 3 unrelated individuals with biallelic RYR3 variants and arthrogryposis. BAB7845 - homozygous for RYR3: c.2486G>A (p.Arg829His) PAED187 - comp het for RYR3 c.2000A>G (p.Asp667Gly) & c.11164+1G>A BAB8988 - homozygous for RYR3: c.8939G>T (p.Arg2980Leu) Multiple other patients have been reported with mono- and bi-allelic RYR3 variants and developmental and epileptic encephalopathy (PMIDs:25262651; 29667327; 39220738; 39840699, and https://doi.org/10.1016/j.gendis.2026.102341). Partial phenotype overlap: some patients showed hypotonia, dystonia, motor dyspraxia (e.g., Xu et al., 2026). Other studies reported RYR3 varians in patients with congenital heart disease: PMID: 39762984; PMID: 41022857. The association between RYR3 and recessive congenital myopathy has been classified as Disputed in ClinGen in Oct 2025 (Congenital Myopathies Expert Panel). RYR3 is associated with AR Congenital myopathy 20, OMIM:620310 in OMIM (accessed 3rd Sept 2026).; to: PMID 29498452 Nilipour et al., 2018 Reported a 22yo female individual with nemaline myopathy and harboring two unique RYR3 missense variants. She presented at 5yo with muscle weakness. At 22yo she had facial weakness, mild scapular winging, proximal limb weakness, high arched palate, and micrognathia. Muscle strength was 4/5 and 5/5 in the limbs. EMG showed myopathic potentials. Muscle biopsy showed features consistent with nemaline myopathy. WES identified comp het variants in RYR3: c.6208A>G, p.Met2070Val (MAF = 0.0007467 in gnomAD v4, no hmz) & c.8939G>T, p.Arg2980Leu (MAF=0.001644 in gnomAD v4, no hmz). Variants confirmed in trans, het parents unaffected. PMID: 31230720 Pehlivan et al., 2019 Reported 3 unrelated individuals with biallelic RYR3 variants and arthrogryposis. BAB7845 - homozygous for RYR3: c.2486G>A (p.Arg829His) - 6mo female with arthrogryposis multiplex congenita, hypotonia, facial dysmorphism. Comp het variants in MYO18B also detected. PAED187 - comp het for RYR3 c.2000A>G (p.Asp667Gly) & c.11164+1G>A - female with bilateral clubfoot, finger contractures, GDD, enteropathy. She had repeated episodes resembling seizures around age 2 yrs - these resolved without treatment. No signs of muscle disease. CGH array detected a 144kb microdeletion in 6q22.31 of unknown significance. BAB8988 - homozygous for RYR3: c.8939G>T (p.Arg2980Leu) - 15yo female with high arched palate, contractures, ulnar deviation, scoliosis. Parents are consanguineous. Multiple other patients have been reported with mono- and bi-allelic RYR3 variants and developmental and epileptic encephalopathy (PMIDs:25262651; 29667327; 39220738; 39840699, and https://doi.org/10.1016/j.gendis.2026.102341). Partial phenotype overlap: some patients showed hypotonia, dystonia, motor dyspraxia (e.g., Xu et al., 2026). Other studies reported RYR3 varians in patients with congenital heart disease: PMID: 39762984; PMID: 41022857. The association between RYR3 and recessive congenital myopathy has been classified as Disputed in ClinGen in Oct 2025 (Congenital Myopathies Expert Panel). RYR3 is associated with AR Congenital myopathy 20, OMIM:620310 in OMIM (accessed 3rd Sept 2026). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.80 | RYR3 |
Ida Ertmanska changed review comment from: PMID 29498452 Nilipour et al., 2018 Reported a 22yo female individual with nemaline myopathy and harboring two unique RYR3 missense variants. She presented at 5yo with muscle weakness. At 22yo she had facial weakness, mild scapular winging, proximal limb weakness, high arched palate, and micrognathia. Muscle strength was 4/5 and 5/5 in the limbs. EMG showed myopathic potentials. Muscle biopsy showed features consistent with nemaline myopathy. WES identified comp het variants in RYR3: c.6208A>G, p.Met2070Val (MAF = 0.0007467 in gnomAD v4, no hmz) & c.8939G>T, p.Arg2980Leu (MAF=0.001644 in gnomAD v4, no hmz). Variants confirmed in trans, het parents unaffected. PMID: 31230720 Pehlivan et al., 2019 Reported 3 unrelated individuals with biallelic RYR3 variants and arthrogryposis. BAB7845 - homozygous for RYR3: c.2486G>A (p.Arg829His) PAED187 - comp het for RYR3 c.2000A>G (p.Asp667Gly) & c.11164+1G>A BAB8988 - homozygous for RYR3: c.8939G>T (p.Arg2980Leu) Multiple other patients have been reported with mono- and bi-allelic RYR3 variants and developmental and epileptic encephalopathy (PMIDs:25262651; 29667327; 39220738; 39840699, and https://doi.org/10.1016/j.gendis.2026.102341). Some patients showed hypotonia, dystonia, motor dyspraxia (e.g., Xu et al., 2026). Other studies reported RYR3 varians in patients with congenital heart disease: PMID: 39762984; PMID: 41022857. The association between RYR3 and recessive congenital myopathy has been classified as Disputed in ClinGen in Oct 2025 (Congenital Myopathies Expert Panel). RYR3 is associated with AR Congenital myopathy 20, OMIM:620310 in OMIM (accessed 3rd Sept 2026).; to: PMID 29498452 Nilipour et al., 2018 Reported a 22yo female individual with nemaline myopathy and harboring two unique RYR3 missense variants. She presented at 5yo with muscle weakness. At 22yo she had facial weakness, mild scapular winging, proximal limb weakness, high arched palate, and micrognathia. Muscle strength was 4/5 and 5/5 in the limbs. EMG showed myopathic potentials. Muscle biopsy showed features consistent with nemaline myopathy. WES identified comp het variants in RYR3: c.6208A>G, p.Met2070Val (MAF = 0.0007467 in gnomAD v4, no hmz) & c.8939G>T, p.Arg2980Leu (MAF=0.001644 in gnomAD v4, no hmz). Variants confirmed in trans, het parents unaffected. PMID: 31230720 Pehlivan et al., 2019 Reported 3 unrelated individuals with biallelic RYR3 variants and arthrogryposis. BAB7845 - homozygous for RYR3: c.2486G>A (p.Arg829His) PAED187 - comp het for RYR3 c.2000A>G (p.Asp667Gly) & c.11164+1G>A BAB8988 - homozygous for RYR3: c.8939G>T (p.Arg2980Leu) Multiple other patients have been reported with mono- and bi-allelic RYR3 variants and developmental and epileptic encephalopathy (PMIDs:25262651; 29667327; 39220738; 39840699, and https://doi.org/10.1016/j.gendis.2026.102341). Partial phenotype overlap: some patients showed hypotonia, dystonia, motor dyspraxia (e.g., Xu et al., 2026). Other studies reported RYR3 varians in patients with congenital heart disease: PMID: 39762984; PMID: 41022857. The association between RYR3 and recessive congenital myopathy has been classified as Disputed in ClinGen in Oct 2025 (Congenital Myopathies Expert Panel). RYR3 is associated with AR Congenital myopathy 20, OMIM:620310 in OMIM (accessed 3rd Sept 2026). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.80 | RYR3 |
Ida Ertmanska changed review comment from: PMID 29498452 Nilipour et al., 2018 Reported an affected individual with nemaline myopathy and harboring two unique RYR3 missense variants. PMID: 31230720 Pehlivan et al., 2019 Reported 3 unrelated individuals with biallelic RYR3 variants and arthrogryposis. BAB7845 - homozygous for RYR3: c.2486G>A (p.Arg829His) PAED187 - comp het for RYR3 c.2000A>G (p.Asp667Gly) & c.11164+1G>A BAB8988 - homozygous for RYR3: c.8939G>T (p.Arg2980Leu) Multiple other patients have been reported with mono- and bi-allelic RYR3 variants and developmental and epileptic encephalopathy (PMIDs:25262651; 29667327; 39220738; 39840699, and https://doi.org/10.1016/j.gendis.2026.102341). Some patients showed hypotonia, dystonia, motor dyspraxia (e.g., Xu et al., 2026). Other studies reported RYR3 varians in patients with congenital heart disease: PMID: 39762984; PMID: 41022857. The association between RYR3 and recessive congenital myopathy has been classified as Disputed in ClinGen in Oct 2025 (Congenital Myopathies Expert Panel). RYR3 is associated with AR Congenital myopathy 20, OMIM:620310 in OMIM (accessed 3rd Sept 2026).; to: PMID 29498452 Nilipour et al., 2018 Reported a 22yo female individual with nemaline myopathy and harboring two unique RYR3 missense variants. She presented at 5yo with muscle weakness. At 22yo she had facial weakness, mild scapular winging, proximal limb weakness, high arched palate, and micrognathia. Muscle strength was 4/5 and 5/5 in the limbs. EMG showed myopathic potentials. Muscle biopsy showed features consistent with nemaline myopathy. WES identified comp het variants in RYR3: c.6208A>G, p.Met2070Val (MAF = 0.0007467 in gnomAD v4, no hmz) & c.8939G>T, p.Arg2980Leu (MAF=0.001644 in gnomAD v4, no hmz). Variants confirmed in trans, het parents unaffected. PMID: 31230720 Pehlivan et al., 2019 Reported 3 unrelated individuals with biallelic RYR3 variants and arthrogryposis. BAB7845 - homozygous for RYR3: c.2486G>A (p.Arg829His) PAED187 - comp het for RYR3 c.2000A>G (p.Asp667Gly) & c.11164+1G>A BAB8988 - homozygous for RYR3: c.8939G>T (p.Arg2980Leu) Multiple other patients have been reported with mono- and bi-allelic RYR3 variants and developmental and epileptic encephalopathy (PMIDs:25262651; 29667327; 39220738; 39840699, and https://doi.org/10.1016/j.gendis.2026.102341). Some patients showed hypotonia, dystonia, motor dyspraxia (e.g., Xu et al., 2026). Other studies reported RYR3 varians in patients with congenital heart disease: PMID: 39762984; PMID: 41022857. The association between RYR3 and recessive congenital myopathy has been classified as Disputed in ClinGen in Oct 2025 (Congenital Myopathies Expert Panel). RYR3 is associated with AR Congenital myopathy 20, OMIM:620310 in OMIM (accessed 3rd Sept 2026). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.80 | RYR3 |
Ida Ertmanska changed review comment from: PMID 29498452 Nilipour et al., 2018 Reported an affected individual with nemaline myopathy and harboring two unique RYR3 missense variants. PMID: 31230720 Pehlivan et al., 2019 Reported 3 unrelated individuals with biallelic RYR3 variants and arthrogryposis. BAB7845 - homozygous for RYR3: c.2486G>A (p.Arg829His) PAED187 - comp het for RYR3 c.2000A>G (p.Asp667Gly) & c.11164+1G>A BAB8988 - homozygous for RYR3: c.8939G>T (p.Arg2980Leu) Multiple other patients have been reported with mono- and bi-allelic RYR3 variants and developmental and epileptic encephalopathy (PMIDs:25262651; 29667327; 39220738; 39840699, and https://doi.org/10.1016/j.gendis.2026.102341). Some patients showed hypotonia, dystonia, motor dyspraxia (e.g., Xu et al., 2026). Other studies reported RYR3 varians in patients with congenital heart disease: PMID: 39762984; PMID: 41022857. The association between RYR3 and recessive congenital myopathy has been classified as Disputed in ClinGen in Oct 2025 (Congenital Myopathies Expert Panel).; to: PMID 29498452 Nilipour et al., 2018 Reported an affected individual with nemaline myopathy and harboring two unique RYR3 missense variants. PMID: 31230720 Pehlivan et al., 2019 Reported 3 unrelated individuals with biallelic RYR3 variants and arthrogryposis. BAB7845 - homozygous for RYR3: c.2486G>A (p.Arg829His) PAED187 - comp het for RYR3 c.2000A>G (p.Asp667Gly) & c.11164+1G>A BAB8988 - homozygous for RYR3: c.8939G>T (p.Arg2980Leu) Multiple other patients have been reported with mono- and bi-allelic RYR3 variants and developmental and epileptic encephalopathy (PMIDs:25262651; 29667327; 39220738; 39840699, and https://doi.org/10.1016/j.gendis.2026.102341). Some patients showed hypotonia, dystonia, motor dyspraxia (e.g., Xu et al., 2026). Other studies reported RYR3 varians in patients with congenital heart disease: PMID: 39762984; PMID: 41022857. The association between RYR3 and recessive congenital myopathy has been classified as Disputed in ClinGen in Oct 2025 (Congenital Myopathies Expert Panel). RYR3 is associated with AR Congenital myopathy 20, OMIM:620310 in OMIM (accessed 3rd Sept 2026). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.80 | RYR3 |
Ida Ertmanska changed review comment from: PMID 29498452 Nilipour et al., 2018 Reported an affected individual with nemaline myopathy and harboring two unique RYR3 missense variants. PMID: 31230720 Pehlivan et al., 2019 Reported 3 unrelated individuals with biallelic RYR3 variants and arthrogryposis. BAB7845 - homozygous for RYR3: c.2486G>A (p.Arg829His) PAED187 - comp het for RYR3 c.2000A>G (p.Asp667Gly) & c.11164+1G>A BAB8988 - homozygous for RYR3: c.8939G>T (p.Arg2980Leu) Multiple other patients have been reported with mono- and bi-allelic RYR3 variants and developmental and epileptic encephalopathy (PMIDs:25262651; 29667327; 39220738; 39840699, and https://doi.org/10.1016/j.gendis.2026.102341). Some patients showed hypotonia, dystonia, motor dyspraxia (e.g., https://doi.org/10.1016/j.gendis.2026.102341). Other studies reported RYR3 varians in patients with congenital heart disease: PMID: 39762984; PMID: 41022857. The association between RYR3 and recessive congenital myopathy has been classified as Disputed in ClinGen in Oct 2025 (Congenital Myopathies Expert Panel).; to: PMID 29498452 Nilipour et al., 2018 Reported an affected individual with nemaline myopathy and harboring two unique RYR3 missense variants. PMID: 31230720 Pehlivan et al., 2019 Reported 3 unrelated individuals with biallelic RYR3 variants and arthrogryposis. BAB7845 - homozygous for RYR3: c.2486G>A (p.Arg829His) PAED187 - comp het for RYR3 c.2000A>G (p.Asp667Gly) & c.11164+1G>A BAB8988 - homozygous for RYR3: c.8939G>T (p.Arg2980Leu) Multiple other patients have been reported with mono- and bi-allelic RYR3 variants and developmental and epileptic encephalopathy (PMIDs:25262651; 29667327; 39220738; 39840699, and https://doi.org/10.1016/j.gendis.2026.102341). Some patients showed hypotonia, dystonia, motor dyspraxia (e.g., Xu et al., 2026). Other studies reported RYR3 varians in patients with congenital heart disease: PMID: 39762984; PMID: 41022857. The association between RYR3 and recessive congenital myopathy has been classified as Disputed in ClinGen in Oct 2025 (Congenital Myopathies Expert Panel). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.80 | RYR3 |
Ida Ertmanska changed review comment from: PMID 29498452 Nilipour et al., 2018 Reported an affected individual with nemaline myopathy and harboring two unique RYR3 missense variants. PMID: 31230720 Pehlivan et al., 2019 Reported 3 unrelated individuals with biallelic RYR3 variants and arthrogryposis. BAB7845 - homozygous for RYR3: c.2486G>A (p.Arg829His) PAED187 - comp het for RYR3 c.2000A>G (p.Asp667Gly) & c.11164+1G>A BAB8988 - homozygous for RYR3: c.8939G>T (p.Arg2980Leu) Multiple other patients have been reported with mono- and bi-allelic RYR3 variants and developmental and epileptic encephalopathy (PMIDs:25262651; 29667327; 39220738; 39840699, and https://doi.org/10.1016/j.gendis.2026.102341). Some patients showed hypotonia, dystonia, motor dyspraxia (e.g., https://doi.org/10.1016/j.gendis.2026.102341). The association between RYR3 and recessive congenital myopathy has been classified as Disputed in ClinGen in Oct 2025 (Congenital Myopathies Expert Panel).; to: PMID 29498452 Nilipour et al., 2018 Reported an affected individual with nemaline myopathy and harboring two unique RYR3 missense variants. PMID: 31230720 Pehlivan et al., 2019 Reported 3 unrelated individuals with biallelic RYR3 variants and arthrogryposis. BAB7845 - homozygous for RYR3: c.2486G>A (p.Arg829His) PAED187 - comp het for RYR3 c.2000A>G (p.Asp667Gly) & c.11164+1G>A BAB8988 - homozygous for RYR3: c.8939G>T (p.Arg2980Leu) Multiple other patients have been reported with mono- and bi-allelic RYR3 variants and developmental and epileptic encephalopathy (PMIDs:25262651; 29667327; 39220738; 39840699, and https://doi.org/10.1016/j.gendis.2026.102341). Some patients showed hypotonia, dystonia, motor dyspraxia (e.g., https://doi.org/10.1016/j.gendis.2026.102341). Other studies reported RYR3 varians in patients with congenital heart disease: PMID: 39762984; PMID: 41022857. The association between RYR3 and recessive congenital myopathy has been classified as Disputed in ClinGen in Oct 2025 (Congenital Myopathies Expert Panel). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.80 | RYR3 |
Ida Ertmanska changed review comment from: PMID 29498452 Nilipour et al., 2018 Reported an affected individual with nemaline myopathy and harboring two unique RYR3 missense variants. PMID: 31230720 Pehlivan et al., 2019 Reported 3 unrelated individuals with biallelic RYR3 variants and arthrogryposis. BAB7845 - homozygous for RYR3: c.2486G>A (p.Arg829His) PAED187 - comp het for RYR3 c.2000A>G (p.Asp667Gly) & c.11164+1G>A BAB8988 - homozygous for RYR3: c.8939G>T (p.Arg2980Leu) Multiple other patients have been reported with mono- and bi-allelic RYR3 variants and developmental and epileptic encephalopathy (PMIDs:25262651; 29667327; 39220738; 39840699, and https://doi.org/10.1016/j.gendis.2026.102341). The association between RYR3 and recessive congenital myopathy has been classified as Disputed in ClinGen in Oct 2025 (Congenital Myopathies Expert Panel).; to: PMID 29498452 Nilipour et al., 2018 Reported an affected individual with nemaline myopathy and harboring two unique RYR3 missense variants. PMID: 31230720 Pehlivan et al., 2019 Reported 3 unrelated individuals with biallelic RYR3 variants and arthrogryposis. BAB7845 - homozygous for RYR3: c.2486G>A (p.Arg829His) PAED187 - comp het for RYR3 c.2000A>G (p.Asp667Gly) & c.11164+1G>A BAB8988 - homozygous for RYR3: c.8939G>T (p.Arg2980Leu) Multiple other patients have been reported with mono- and bi-allelic RYR3 variants and developmental and epileptic encephalopathy (PMIDs:25262651; 29667327; 39220738; 39840699, and https://doi.org/10.1016/j.gendis.2026.102341). Some patients showed hypotonia, dystonia, motor dyspraxia (e.g., https://doi.org/10.1016/j.gendis.2026.102341). The association between RYR3 and recessive congenital myopathy has been classified as Disputed in ClinGen in Oct 2025 (Congenital Myopathies Expert Panel). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.80 | RYR3 |
Ida Ertmanska changed review comment from: PMID 29498452 Nilipour et al., 2018 Reported an affected individual with nemaline myopathy and harboring two unique RYR3 missense variants. PMID: 31230720 Pehlivan et al., 2019 Reported 3 unrelated individuals with biallelic RYR3 variants and arthrogryposis. BAB7845 - homozygous for RYR3: c.2486G>A (p.Arg829His) PAED187 - comp het for RYR3 c.2000A>G (p.Asp667Gly) & c.11164+1G>A BAB8988 - homozygous for RYR3: c.8939G>T (p.Arg2980Leu) Multiple other patients have been reported with mono- and bi-allelic RYR3 variants and developmental and epileptic encephalopathy (PMIDs:25262651;29667327;39220738;39840699, and https://doi.org/10.1016/j.gendis.2026.102341). The association between RYR3 and recessive congenital myopathy has been classified as Disputed in ClinGen in Oct 2025 (Congenital Myopathies Expert Panel).; to: PMID 29498452 Nilipour et al., 2018 Reported an affected individual with nemaline myopathy and harboring two unique RYR3 missense variants. PMID: 31230720 Pehlivan et al., 2019 Reported 3 unrelated individuals with biallelic RYR3 variants and arthrogryposis. BAB7845 - homozygous for RYR3: c.2486G>A (p.Arg829His) PAED187 - comp het for RYR3 c.2000A>G (p.Asp667Gly) & c.11164+1G>A BAB8988 - homozygous for RYR3: c.8939G>T (p.Arg2980Leu) Multiple other patients have been reported with mono- and bi-allelic RYR3 variants and developmental and epileptic encephalopathy (PMIDs:25262651; 29667327; 39220738; 39840699, and https://doi.org/10.1016/j.gendis.2026.102341). The association between RYR3 and recessive congenital myopathy has been classified as Disputed in ClinGen in Oct 2025 (Congenital Myopathies Expert Panel). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.80 | RYR3 |
Ida Ertmanska changed review comment from: PMID 29498452 Nilipour et al., 2018 Reported an affected individual with nemaline myopathy and harboring two unique RYR3 missense variants. PMID: 31230720 Pehlivan et al., 2019 Reported 3 unrelated individuals with biallelic RYR3 variants and arthrogryposis. BAB7845 - homozygous for RYR3: c.2486G>A (p.Arg829His) PAED187 - comp het for RYR3 c.2000A>G (p.Asp667Gly) & c.11164+1G>A BAB8988 - homozygous for RYR3: c.8939G>T (p.Arg2980Leu) The association between RYR3 and recessive congenital myopathy has been classified as Disputed in ClinGen in Oct 2025 (Congenital Myopathies Expert Panel).; to: PMID 29498452 Nilipour et al., 2018 Reported an affected individual with nemaline myopathy and harboring two unique RYR3 missense variants. PMID: 31230720 Pehlivan et al., 2019 Reported 3 unrelated individuals with biallelic RYR3 variants and arthrogryposis. BAB7845 - homozygous for RYR3: c.2486G>A (p.Arg829His) PAED187 - comp het for RYR3 c.2000A>G (p.Asp667Gly) & c.11164+1G>A BAB8988 - homozygous for RYR3: c.8939G>T (p.Arg2980Leu) Multiple other patients have been reported with mono- and bi-allelic RYR3 variants and developmental and epileptic encephalopathy (PMIDs:25262651;29667327;39220738;39840699, and https://doi.org/10.1016/j.gendis.2026.102341). The association between RYR3 and recessive congenital myopathy has been classified as Disputed in ClinGen in Oct 2025 (Congenital Myopathies Expert Panel). |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.80 | RYR3 | Ida Ertmanska reviewed gene: RYR3: Rating: RED; Mode of pathogenicity: None; Publications: 29498452, 31230720; Phenotypes: Congenital myopathy 20, OMIM:620310, congenital myopathy 20, MONDO:0957215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.31 | RYR3 | Arina Puzriakova Phenotypes for gene: RYR3 were changed from Nemaline myopathy, MONDO:0018958 to Congenital myopathy 20, OMIM:620310; Nemaline myopathy, MONDO:0018958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.30 | RYR3 | Arina Puzriakova Tag gene-checked was removed from gene: RYR3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v3.88 | RYR3 | Arina Puzriakova Phenotypes for gene: RYR3 were changed from childhood-onset nemaline myopathy to Nemaline myopathy, MONDO:0018958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v2.83 | RYR3 | Eleanor Williams Tag gene-checked tag was added to gene: RYR3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.225 | RYR3 | Louise Daugherty changed review comment from: Comment on list classification: Upgraded rating from Amber to Green. However Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81; to: Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.225 | RYR3 | Louise Daugherty Classified gene: RYR3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.225 | RYR3 | Louise Daugherty Added comment: Comment on list classification: Upgraded rating from Amber to Green. However Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating for this gene on R81 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.225 | RYR3 | Louise Daugherty Gene: ryr3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.223 | RYR3 | Anna Sarkozy reviewed gene: RYR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.217 | RYR3 | Louise Daugherty Classified gene: RYR3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.217 | RYR3 | Louise Daugherty Added comment: Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.217 | RYR3 | Louise Daugherty Gene: ryr3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.216 | RYR3 |
Louise Daugherty gene: RYR3 was added gene: RYR3 was added to Congenital myopathy. Sources: Expert Review,NHS GMS Mode of inheritance for gene: RYR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RYR3 were set to 29498452 Phenotypes for gene: RYR3 were set to childhood-onset nemaline myopathy Review for gene: RYR3 was set to AMBER Added comment: gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off. Recessive missense variants were identified in a patient with childhood-onset nemaline myopathy. Nilipour Y, Nafissi S, Tjust AE, et al. : Ryanodine receptor type 3 ( RYR3) as a novel gene associated with a myopathy with nemaline bodies. Eur J Neurol. 2018;25(6):841–7. Sources: Expert Review, NHS GMS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||