Activity
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6 actions
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| Possible mitochondrial disorder - nuclear genes v0.134 | ERAL1 | Carl Fratter reviewed gene: ERAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28449065; Phenotypes: Perrault syndrome 6, 617565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.110 | ERAL1 | Ellen McDonagh Classified gene: ERAL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.110 | ERAL1 | Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.110 | ERAL1 | Ellen McDonagh Gene: eral1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | ERAL1 | Ivone Leong reviewed gene: ERAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Perrault syndrome 6, 617565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.2 | ERAL1 |
Ivone Leong gene: ERAL1 was added gene: ERAL1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, 617565 |
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