Activity
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| Arthrogryposis v9.15 | CIAO1 | Arina Puzriakova Phenotypes for gene: CIAO1 were changed from CIAO1 associated neuromuscular disorder to Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v7.2 | CIAO1 | Sarah Leigh edited their review of gene: CIAO1: Added comment: CIAO1 has been rated as amber on this panel (Arthrogryposis) as the contractures reported in PMID: 38950322 are limited to Achilles tendon. If further evidence is published, a green rating will be recommended for CIAO1 on this panel.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v7.2 | CIAO1 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: CIAO1. Tag Q3_24_NHS_review was removed from gene: CIAO1. |
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| Arthrogryposis v7.2 | CIAO1 | Sarah Leigh Entity copied from Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v7.2 | CIAO1 |
Sarah Leigh gene: CIAO1 was added gene: CIAO1 was added to Arthrogryposis. Sources: Expert Review Amber,Literature Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: CIAO1. 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 CIAO1 associated neuromuscular disorder |
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