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Possible mitochondrial disorder - nuclear genes v0.134 | MRPS16 | Carl Fratter reviewed gene: MRPS16: Rating: AMBER; Mode of pathogenicity: ; Publications: 28749478, 15505824; Phenotypes: Combined oxidative phosphorylation deficiency 2, 610498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v0.38 | MRPS16 | Ellen McDonagh Classified gene: MRPS16 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v0.38 | MRPS16 | 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 v0.38 | MRPS16 | Ellen McDonagh Gene: mrps16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v0.5 | MRPS16 | Ivone Leong reviewed gene: MRPS16: Rating: GREEN; Mode of pathogenicity: ; Publications: 28749478, 15505824 ; Phenotypes: Combined oxidative phosphorylation deficiency 2, 610498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v0.2 | MRPS16 |
Ivone Leong gene: MRPS16 was added gene: MRPS16 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS16 were set to 28749478; 15505824 Phenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2, 610498 |