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| Severe Paediatric Disorders v0.12 | MT-RNR1 | Louise Daugherty reviewed gene: MT-RNR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | MT-RNR1 | Louise Daugherty Publications for gene MT-RNR1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | MT-RNR1 | Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; CARDIOMYOPATHY, RESTRICTIVE; DEAFNESS, AMINOGLYCOSIDE-INDUCED; AUDITORY NEUROPATHY for gene: MT-RNR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | MT-RNR1 | Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; CARDIOMYOPATHY, RESTRICTIVE; DEAFNESS, AMINOGLYCOSIDE-INDUCED; AUDITORY NEUROPATHY for gene: MT-RNR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | MT-RNR1 | Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; CARDIOMYOPATHY, RESTRICTIVE; DEAFNESS, AMINOGLYCOSIDE-INDUCED; AUDITORY NEUROPATHY for gene: MT-RNR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | MT-RNR1 | Louise Daugherty Added phenotypes CARDIOMYOPATHY, RESTRICTIVE; DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; AUDITORY NEUROPATHY; DEAFNESS, AMINOGLYCOSIDE-INDUCED for gene: MT-RNR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | MT-RNR1 | Louise Daugherty Source Next Generation Children Project was added to MT-RNR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | MT-RNR1 |
Louise Daugherty Source Expert Review Green was added to MT-RNR1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | MT-RNR1 |
Louise Daugherty gene: MT-RNR1 was added gene: MT-RNR1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL |
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