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| Acute rhabdomyolysis v0.6 | CAV3 | Arina Puzriakova edited their review of gene: CAV3: Added comment: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v0.5 | CAV3 | Arina Puzriakova Added comment: Comment on mode of inheritance: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has been set to 'both mono and biallelic'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v0.5 | CAV3 | Arina Puzriakova Mode of inheritance for gene: CAV3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v0.2 | CAV3 |
Arina Puzriakova gene: CAV3 was added gene: CAV3 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAV3 were set to 12666119; 15668980; 11251997; 27312022; 16730439; 9536092 Phenotypes for gene: CAV3 were set to Rippling muscle disease, OMIM:606072; Myopathy, distal, Tateyama type, OMIM:614321 |
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