Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v7.18 | FDXR | Arina Puzriakova Tag Q3_24_promote_green was removed from gene: FDXR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v7.18 | FDXR | Arina Puzriakova commented on gene: FDXR: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v7.17 | FDXR |
Arina Puzriakova Source NHS GMS was added to FDXR. Source Expert Review Green was added to FDXR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v6.5 | FDXR | Arina Puzriakova Classified gene: FDXR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v6.5 | FDXR | Arina Puzriakova Gene: fdxr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v6.4 | FDXR |
Arina Puzriakova gene: FDXR was added gene: FDXR was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Q3_24_promote_green tags were added to gene: FDXR. Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDXR were set to 37046037 Phenotypes for gene: FDXR were set to Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887 Review for gene: FDXR was set to GREEN Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Review by Masnada et al (2023) of 44 individuals from 35 families reported in literature with FDXR variants revealed ataxia in more than 40% of patients. More complex cases also showed cerebellar atrophy/hypoplasia on neuroimaging (13.63%). In most cases neurological signs developed with progression of disease but presentation since clinical onset has also been described. Most common features include optic neuropathy (93.2%) and acoustic neuropathy (50%). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||