Activity
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| Ataxia and cerebellar anomalies - narrow panel v6.3 | TANGO2 |
Sarah Leigh Tag Q2_24_promote_green was removed from gene: TANGO2. Tag Q2_24_NHS_review was removed from gene: TANGO2. |
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| Ataxia and cerebellar anomalies - narrow panel v6.3 | TANGO2 | Sarah Leigh reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v6.2 | TANGO2 |
Sarah Leigh Source NHS GMS was added to TANGO2. Source Expert Review Green was added to TANGO2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v5.6 | TANGO2 |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Asma Hamad, biallelic TANGO2 variants are associated with a syndromic disorder characterized by neurodevelopmental delays, seizures, intermittent ataxia, hypothyroidism and life-threatening metabolic and cardiac crises. Hence, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Asma Hamad, biallelic TANGO2 variants are associated with a syndromic disorder characterized by neurodevelopmental delays, seizures, intermittent ataxia, hypothyroidism and life-threatening metabolic and cardiac crises. Hence, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. |
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| Ataxia and cerebellar anomalies - narrow panel v5.6 | TANGO2 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Asma Hamad, biallelic TANGO2 variants are associated with a syndromic disorder comprising characterized by neurodevelopmental delays, seizures, intermittent ataxia, hypothyroidism and life-threatening metabolic and cardiac crises. Hence, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Asma Hamad, biallelic TANGO2 variants are associated with a syndromic disorder characterized by neurodevelopmental delays, seizures, intermittent ataxia, hypothyroidism and life-threatening metabolic and cardiac crises. Hence, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v5.6 | TANGO2 |
Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: TANGO2. Tag Q2_24_NHS_review tag was added to gene: TANGO2. |
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| Ataxia and cerebellar anomalies - narrow panel v5.6 | TANGO2 | Achchuthan Shanmugasundram Classified gene: TANGO2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v5.6 | TANGO2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Asma Hamad, biallelic TANGO2 variants are associated with a syndromic disorder comprising characterized by neurodevelopmental delays, seizures, intermittent ataxia, hypothyroidism and life-threatening metabolic and cardiac crises. Hence, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v5.6 | TANGO2 | Achchuthan Shanmugasundram Gene: tango2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v5.5 | TANGO2 | Achchuthan Shanmugasundram Publications for gene: TANGO2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v5.4 | TANGO2 | Achchuthan Shanmugasundram Phenotypes for gene: TANGO2 were changed from to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v5.3 | TANGO2 | Achchuthan Shanmugasundram reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30245509, 31276219, 32527145, 36473599; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v5.3 | TANGO2 |
Asma Hamad changed review comment from: PMID 30245509 - Report of 14 individuals with TANGO2-related disorder. One of the patients discussed developed ataxia and dizziness at the age of 2 yeas (Patient 10) PMID 31276219 - 2019 paper which reports 11 new cases of TANGO2-related disease. All 11 patients showed developmental delay with ataxia PMID 36473599 - Data collected from 73 individuals studying the natural history of TANGO2 deficiency disorder. 94% of individuals (65/69) had ataxia as a feature. Ataxia was one of the symptoms found to occur between the ages of 1 to 3 years and of the first symptoms noted. PMID 32527145 - Case report of a 6-year old girl diagnosed with TANGO2-related disease. By the age of 29 months, she had developed ataxia that worsened with viral illnesses and seizures and was recurrent in nature I am a NHS Clinician and have clinical Experience of a patient who had episodic ataxia as one of their presenting features. Testing in the hereditary ataxia panel did not find any pathogenic variants as the TANGO2 gene is not present on the panel. A diagnosis was later achieved over 4 years later when it became evident they had learning difficulties and the R29 panel was activated. Sources: Literature; to: PMID 30245509 - Report of 14 individuals with TANGO2-related disorder. One of the patients discussed developed ataxia and dizziness at the age of 2 yeas (Patient 10) PMID 31276219 - 2019 paper which reports 11 new cases of TANGO2-related disease. All 11 patients showed developmental delay with ataxia PMID 36473599 - Data collected from 73 individuals studying the natural history of TANGO2 deficiency disorder. 94% of individuals (65/69) had ataxia as a feature. Ataxia was one of the symptoms found to occur between the ages of 1 to 3 years and of the first symptoms noted. PMID 32527145 - Case report of a 6-year old girl diagnosed with TANGO2-related disease. By the age of 29 months, she had developed ataxia that worsened with viral illnesses and seizures and was recurrent in nature I am a NHS Clinician and have clinical experience of a patient who had episodic ataxia as one of their presenting features. Testing in the hereditary ataxia panel did not find any pathogenic variants as the TANGO2 gene was not present on the panel. A diagnosis was later achieved over 4 years later when it became evident they had learning difficulties and the R29 panel was activated. Sources: Literature |
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| Ataxia and cerebellar anomalies - narrow panel v5.3 | TANGO2 |
Asma Hamad changed review comment from: PMID 30245509 - Report of 14 individuals with TANGO2-related disorder. One of the patients discussed developed ataxia and dizziness at the age of 2 yeas (Patient 10) PMID 31276219 - 2019 paper which reports 11 new cases of TANGO2-related disease. All 11 patients showed developmental delay with ataxia PMID 36473599 - Data collected from 73 individuals studying the natural history of TANGO2 deficiency disorder. 94% of individuals (65/69) had ataxia as a feature. Ataxia was one of the symptoms found to occur between the ages of 1 to 3 years and of the first symptoms noted. PMID 32527145 - Case report of a 6-year old girl diagnosed with TANGO2-related disease. By the age of 29 months, she had developed ataxia that worsened with viral illnesses and seizures and was recurrent in nature Clinical Experience of a patient who had episodic ataxia as one of their presenting features. Testing in the hereditary ataxia panel did not find any pathogenic variants as the TANGO2 gene is not present on the panel. A diagnosis was later achieved over 4 years later when it became evident they had learning difficulties and the R29 panel was activated. Sources: Literature; to: PMID 30245509 - Report of 14 individuals with TANGO2-related disorder. One of the patients discussed developed ataxia and dizziness at the age of 2 yeas (Patient 10) PMID 31276219 - 2019 paper which reports 11 new cases of TANGO2-related disease. All 11 patients showed developmental delay with ataxia PMID 36473599 - Data collected from 73 individuals studying the natural history of TANGO2 deficiency disorder. 94% of individuals (65/69) had ataxia as a feature. Ataxia was one of the symptoms found to occur between the ages of 1 to 3 years and of the first symptoms noted. PMID 32527145 - Case report of a 6-year old girl diagnosed with TANGO2-related disease. By the age of 29 months, she had developed ataxia that worsened with viral illnesses and seizures and was recurrent in nature I am a NHS Clinician and have clinical Experience of a patient who had episodic ataxia as one of their presenting features. Testing in the hereditary ataxia panel did not find any pathogenic variants as the TANGO2 gene is not present on the panel. A diagnosis was later achieved over 4 years later when it became evident they had learning difficulties and the R29 panel was activated. Sources: Literature |
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| Ataxia and cerebellar anomalies - narrow panel v5.3 | TANGO2 |
Asma Hamad gene: TANGO2 was added gene: TANGO2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: TANGO2 was set to AMBER Added comment: PMID 30245509 - Report of 14 individuals with TANGO2-related disorder. One of the patients discussed developed ataxia and dizziness at the age of 2 yeas (Patient 10) PMID 31276219 - 2019 paper which reports 11 new cases of TANGO2-related disease. All 11 patients showed developmental delay with ataxia PMID 36473599 - Data collected from 73 individuals studying the natural history of TANGO2 deficiency disorder. 94% of individuals (65/69) had ataxia as a feature. Ataxia was one of the symptoms found to occur between the ages of 1 to 3 years and of the first symptoms noted. PMID 32527145 - Case report of a 6-year old girl diagnosed with TANGO2-related disease. By the age of 29 months, she had developed ataxia that worsened with viral illnesses and seizures and was recurrent in nature Clinical Experience of a patient who had episodic ataxia as one of their presenting features. Testing in the hereditary ataxia panel did not find any pathogenic variants as the TANGO2 gene is not present on the panel. A diagnosis was later achieved over 4 years later when it became evident they had learning difficulties and the R29 panel was activated. Sources: Literature |
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