Activity
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10 actions
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| Congenital myopathy v5.16 | LETM1 | Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing was removed from gene: LETM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.44 | LETM1 | Achchuthan Shanmugasundram Tag currently-not-available-via-GLH-non-WGS-testing tag was added to gene: LETM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.42 | LETM1 |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: LETM1. Tag Q3_23_NHS_review was removed from gene: LETM1. Tag Q3_23_MOI was removed from gene: LETM1. |
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| Congenital myopathy v4.42 | LETM1 | Achchuthan Shanmugasundram reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.41 | LETM1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LETM1. Source NHS GMS was added to LETM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital myopathy v4.33 | LETM1 | Eleanor Williams Tag Q3_23_NHS_review tag was added to gene: LETM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.30 | LETM1 | Sarah Leigh Tag Q3_23_NHS_review was removed from gene: LETM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.30 | LETM1 |
Sarah Leigh changed review comment from: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder. PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).; to: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder. PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%), myopathy 6/12 (50%) (PMID: 36055214, figure 1c). |
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| Congenital myopathy v4.30 | LETM1 | Sarah Leigh Entity copied from Possible mitochondrial disorder - nuclear genes v3.42 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.30 | LETM1 |
Sarah Leigh gene: LETM1 was added gene: LETM1 was added to Congenital myopathy. Sources: Expert Review,Expert Review Amber Q3_23_promote_green, Q3_23_NHS_review, Q3_23_MOI tags were added to gene: LETM1. Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LETM1 were set to 36055214; 33815143 Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 |
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