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| Possible mitochondrial disorder - nuclear genes v0.134 | MRPS7 | Carl Fratter reviewed gene: MRPS7: Rating: AMBER; Mode of pathogenicity: ; Publications: 25556185; Phenotypes: ?Combined oxidative phosphorylation deficiency 34, 617872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.41 | MRPS7 | Ellen McDonagh Classified gene: MRPS7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.41 | MRPS7 | Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.41 | MRPS7 | Ellen McDonagh Gene: mrps7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | MRPS7 | Ivone Leong reviewed gene: MRPS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Combined oxidative phosphorylation deficiency 34, 617872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.2 | MRPS7 |
Ivone Leong gene: MRPS7 was added gene: MRPS7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MRPS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS7 were set to ?Combined oxidative phosphorylation deficiency 34, 617872 |
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