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| Optic neuropathy v2.58 | FDXR | Ivone Leong Tag for-review was removed from gene: FDXR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.58 | FDXR | Ivone Leong commented on gene: FDXR: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.57 | FDXR |
Ivone Leong Source Expert Review Green was added to FDXR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Optic neuropathy v2.30 | FDXR | Ivone Leong Publications for gene: FDXR were set to 30250212; 28965846; 29040572; 32499495 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.29 | FDXR | Neringa Jurkute reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 28965846, 32499495, 30250212, 33348459, 29040572; Phenotypes: Optic atrophy and sensorineural hearing loss, mitochondrial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.16 | FDXR | Ivone Leong Classified gene: FDXR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.16 | FDXR |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant disease in OMIM. PMID: 2499495 describes a FDXR KO mouse model that had progressive optic neuropathy. Based on all the available evidence there is enough evidence to promote this gene to Green status, which will be done at the next major review. Therefore, this gene has been rated as Amber for now. |
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| Optic neuropathy v2.16 | FDXR | Ivone Leong Gene: fdxr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.15 | FDXR | Ivone Leong Tag for-review tag was added to gene: FDXR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.15 | FDXR | Ivone Leong Publications for gene: FDXR were set to 30250212; 28965846; 29040572 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.13 | FDXR | Ivone Leong Phenotypes for gene: FDXR were changed from Auditory neuropathy and optic atrophy, MIM#617717 to Auditory neuropathy and optic atrophy, 617717 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.12 | FDXR | Ivone Leong Publications for gene: FDXR were set to 30250212; 28965846 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.3 | FDXR | Sara Martins reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30250212, PMID: 28965846, PMID: 29040572; Phenotypes: Auditory neuropathy and optic atrophy (MIM 617717); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.3 | FDXR |
Zornitza Stark gene: FDXR was added gene: FDXR was added to Optic neuropathy. Sources: Expert list Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDXR were set to 30250212; 28965846 Phenotypes for gene: FDXR were set to Auditory neuropathy and optic atrophy, MIM#617717 Review for gene: FDXR was set to GREEN Added comment: Six unrelated families reported with bi-allelic variants in this gene, optic atrophy is a consistent feature. Sources: Expert list |
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