Activity
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10 actions
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.25 | CIAO1 |
Arina Puzriakova Tag Q3_24_promote_green was removed from gene: CIAO1. Tag Q3_24_NHS_review was removed from gene: CIAO1. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.25 | CIAO1 | Arina Puzriakova Phenotypes for gene: CIAO1 were changed from CIAO1 associated neuromuscular disorder to Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.24 | CIAO1 | Arina Puzriakova reviewed gene: CIAO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v5.23 | CIAO1 |
Arina Puzriakova Source NHS GMS was added to CIAO1. Source Expert Review Green was added to CIAO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 | CIAO1 |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CIAO1. Tag Q3_24_NHS_review tag was added to gene: CIAO1. |
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| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 | CIAO1 | Sarah Leigh reviewed gene: CIAO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 | CIAO1 | Sarah Leigh Phenotypes for gene: CIAO1 were changed from myopathy to CIAO1 associated neuromuscular disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.36 | CIAO1 | Sarah Leigh Classified gene: CIAO1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.36 | CIAO1 | Sarah Leigh Gene: ciao1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 | CIAO1 |
Dmitrijs Rots gene: CIAO1 was added gene: CIAO1 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIAO1 were set to 38950322 Phenotypes for gene: CIAO1 were set to myopathy Review for gene: CIAO1 was set to GREEN Added comment: Study reported at least 4 families with: "patients with biallelic loss of function in CIAO1 developed proximal and axial muscle weakness, fluctuating creatine kinase elevation, and respiratory insufficiency. In addition, they presented with CNS symptoms including learning difficulties and neurobehavioral comorbidities, along with iron deposition in deep brain nuclei, mild normocytic to macrocytic anemia, and gastrointestinal symptoms.". Sources: Literature |
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