Activity
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| Congenital muscular dystrophy v6.4 | CIAO1 | Arina Puzriakova Phenotypes for gene: CIAO1 were changed from CIAO1 associated neuromuscular disorder to Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v6.3 | CIAO1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CIAO1. Tag Q3_24_NHS_review was removed from gene: CIAO1. |
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| Congenital muscular dystrophy v6.3 | CIAO1 | Achchuthan Shanmugasundram reviewed gene: CIAO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v6.2 | CIAO1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CIAO1. Source NHS GMS was added to CIAO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital muscular dystrophy v4.26 | CIAO1 | Sarah Leigh Entity copied from Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital muscular dystrophy v4.26 | CIAO1 |
Sarah Leigh gene: CIAO1 was added gene: CIAO1 was added to Congenital muscular dystrophy. 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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