| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Possible mitochondrial disorder - nuclear genes v0.134 | YME1L1 | Carl Fratter reviewed gene: YME1L1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27495975; Phenotypes: ?Optic atrophy 11, 617302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.132 | YME1L1 | Ellen McDonagh Classified gene: YME1L1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.132 | YME1L1 | 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 v0.132 | YME1L1 | Ellen McDonagh Gene: yme1l1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | YME1L1 | Ivone Leong reviewed gene: YME1L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Optic atrophy 11, 617302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.4 | YME1L1 |
Ivone Leong gene: YME1L1 was added gene: YME1L1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: YME1L1 were set to ?Optic atrophy 11, 617302 |
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