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| Hereditary ataxia with onset in adulthood v7.23 | NPTX1 |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Jenna Ridley, there are eight unrelated families identified with four different heterozygous missense variants in NPTX1 gene. Seven families were reported with late-onset ataxia, whereas it is early-onset in the six-year-old girl reported in PMID:35560436. There is also functional evidence available for the two variants reported in PMID:34788392. This gene has been associated with relevant phenotype in OMIM (MIM #620158). Hence, this gene should be promoted to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Jenna Ridley, there are eight unrelated families identified with four different heterozygous missense variants in NPTX1 gene. Seven families were reported with late-onset ataxia, whereas it is early-onset in the six-year-old girl reported in PMID:35560436. There is also functional evidence available for the two variants reported in PMID:34788392. This gene has been associated with relevant phenotype in OMIM (MIM #620158). Hence, this gene should be promoted to green rating in the next GMS update. |
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| Hereditary ataxia with onset in adulthood v7.23 | NPTX1 |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Jenna Ridley, there are eight unrelated families identified with four different missense heterozygous NPTX1 variants. Seven families were reported with late-onset ataxia, whereas it is early onset in the six-year-old girl reported in PMID:35560436. There is also functional evidence available. This gene has been associated with relevant phenotype in OMIM (MIM #620158). Hence, this gene should be promoted to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Jenna Ridley, there are eight unrelated families identified with four different heterozygous missense variants in NPTX1 gene. Seven families were reported with late-onset ataxia, whereas it is early-onset in the six-year-old girl reported in PMID:35560436. There is also functional evidence available for the two variants reported in PMID:34788392. This gene has been associated with relevant phenotype in OMIM (MIM #620158). Hence, this gene should be promoted to green rating in the next GMS update. |
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| Hereditary ataxia with onset in adulthood v7.23 | NPTX1 | Achchuthan Shanmugasundram Classified gene: NPTX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v7.23 | NPTX1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Jenna Ridley, there are eight unrelated families identified with four different missense heterozygous NPTX1 variants. Seven families were reported with late-onset ataxia, whereas it is early onset in the six-year-old girl reported in PMID:35560436. There is also functional evidence available. This gene has been associated with relevant phenotype in OMIM (MIM #620158). Hence, this gene should be promoted to green rating in the next GMS update. |
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| Hereditary ataxia with onset in adulthood v7.23 | NPTX1 | Achchuthan Shanmugasundram Gene: nptx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v7.22 | NPTX1 |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: NPTX1. Tag Q2_25_ NHS_review tag was added to gene: NPTX1. |
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| Hereditary ataxia with onset in adulthood v7.22 | NPTX1 | Achchuthan Shanmugasundram edited their review of gene: NPTX1: Changed publications to: 34788392, 35285082, 35288776, 35560436 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v7.22 | NPTX1 | Achchuthan Shanmugasundram reviewed gene: NPTX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34788392, 35285082, 35288776, PMID:35560436; Phenotypes: Spinocerebellar ataxia 50, OMIM:620158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v7.8 | NPTX1 |
Jenna Ridley changed review comment from: Eight unrelated families/cases reported with heterozygous missense variants with cerebellar ataxia, oculomotor apraxia, downbeat nystagmus, cognitive impairment reminiscent of cerebellar cognitive affective syndrome, myoclonic tremor and mild cerebellar vermian atrophy on brain imaging. One of these cases is childhood onset. PMID:34788392 reported a large multigenerational family with late onset slowly progressive cerebellar ataxia (along with other clinical manifestations) in which 9 members and 6 additional patients from four families harboured c.1165G>A p.(Gly389Arg) variant. Unaffected individuals that were tested did not harbour the variant. An additional patient from another unrelated family harboured c.980A>G p.(Glu327Gly) variant. PMID:35285082 reported a male patient with slowly progressive late-onset ataxia with c.428G>T p.(Arg143Leu). PMID: 35288776 report a 58-year-old woman from one of the families reported by Coutelier et al. (2022) (family LUEB01) who presented with oculomotor apraxia at 43 years of age. Her visual disturbances were progressive and severe, with an inability to initiate horizontal saccades or smooth pursuit eye movements. She did not have nystagmus or oculomotor cerebellar signs. Functional MRI studies showed abnormally reduced structural connectivity within the defined oculomotor network of each hemisphere (intrahemispheric dysfunction). Please note that PMID:35560436 reported a six years old girl with early-onset ataxia with c.1109A>G p.(Gln370Arg) Only missense variants appear to be reported for this gene. Sources: Literature; to: Eight unrelated families/cases reported with heterozygous missense variants with cerebellar ataxia, oculomotor apraxia, downbeat nystagmus, cognitive impairment reminiscent of cerebellar cognitive affective syndrome, myoclonic tremor and mild cerebellar vermian atrophy on brain imaging. One of these cases is childhood onset. PMID:34788392 reported a large multigenerational family with late onset slowly progressive cerebellar ataxia (along with other clinical manifestations) in which 9 members and 6 additional patients from four families harboured c.1165G>A p.(Gly389Arg) variant. Unaffected individuals that were tested did not harbour the variant. An additional patient from another unrelated family harboured c.980A>G p.(Glu327Gly) variant. Functional work undertaken also support pathogenicity for these variants. PMID:35285082 reported a male patient with slowly progressive late-onset ataxia with c.428G>T p.(Arg143Leu). PMID: 35288776 report a 58-year-old woman from one of the families reported by Coutelier et al. (2022) (family LUEB01) who presented with oculomotor apraxia at 43 years of age. Her visual disturbances were progressive and severe, with an inability to initiate horizontal saccades or smooth pursuit eye movements. She did not have nystagmus or oculomotor cerebellar signs. Functional MRI studies showed abnormally reduced structural connectivity within the defined oculomotor network of each hemisphere (intrahemispheric dysfunction). Please note that PMID:35560436 reported a six years old girl with early-onset ataxia with c.1109A>G p.(Gln370Arg) Only missense variants appear to be reported for this gene. Sources: Literature |
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| Hereditary ataxia with onset in adulthood v7.8 | NPTX1 |
Jenna Ridley gene: NPTX1 was added gene: NPTX1 was added to Hereditary ataxia with onset in adulthood. Sources: Literature Mode of inheritance for gene: NPTX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NPTX1 were set to 34788392; 35285082; 35288776; 35560436 Phenotypes for gene: NPTX1 were set to Spinocerebellar ataxia 50, OMIM:620158 Penetrance for gene: NPTX1 were set to Complete Mode of pathogenicity for gene: NPTX1 was set to Other Review for gene: NPTX1 was set to GREEN gene: NPTX1 was marked as current diagnostic Added comment: Eight unrelated families/cases reported with heterozygous missense variants with cerebellar ataxia, oculomotor apraxia, downbeat nystagmus, cognitive impairment reminiscent of cerebellar cognitive affective syndrome, myoclonic tremor and mild cerebellar vermian atrophy on brain imaging. One of these cases is childhood onset. PMID:34788392 reported a large multigenerational family with late onset slowly progressive cerebellar ataxia (along with other clinical manifestations) in which 9 members and 6 additional patients from four families harboured c.1165G>A p.(Gly389Arg) variant. Unaffected individuals that were tested did not harbour the variant. An additional patient from another unrelated family harboured c.980A>G p.(Glu327Gly) variant. PMID:35285082 reported a male patient with slowly progressive late-onset ataxia with c.428G>T p.(Arg143Leu). PMID: 35288776 report a 58-year-old woman from one of the families reported by Coutelier et al. (2022) (family LUEB01) who presented with oculomotor apraxia at 43 years of age. Her visual disturbances were progressive and severe, with an inability to initiate horizontal saccades or smooth pursuit eye movements. She did not have nystagmus or oculomotor cerebellar signs. Functional MRI studies showed abnormally reduced structural connectivity within the defined oculomotor network of each hemisphere (intrahemispheric dysfunction). Please note that PMID:35560436 reported a six years old girl with early-onset ataxia with c.1109A>G p.(Gln370Arg) Only missense variants appear to be reported for this gene. Sources: Literature |
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