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Hereditary neuropathy or pain disorder v6.148 FDXR Sarah Leigh Tag Q3_24_promote_green was removed from gene: FDXR.
Tag Q3_24_NHS_review was removed from gene: FDXR.
Hereditary neuropathy or pain disorder v6.148 FDXR Sarah Leigh reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.147 FDXR Sarah Leigh 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)
Hereditary neuropathy or pain disorder v5.69 FDXR Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: FDXR.
Tag Q3_24_NHS_review tag was added to gene: FDXR.
Hereditary neuropathy or pain disorder v5.69 FDXR Arina Puzriakova Classified gene: FDXR as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.69 FDXR Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Alexander Rossor (UCL Institute of Neurology). 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 sensorimotor peripheral polyneuropathy in more than 20% of patients. In most cases peripheral neuropathy manifests in late stages of disease but presentation since clinical onset has also been described. Other common features include optic neuropathy (93.2%) and acoustic neuropathy (50%).
Hereditary neuropathy or pain disorder v5.69 FDXR Arina Puzriakova Gene: fdxr has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.68 FDXR Arina Puzriakova Publications for gene: FDXR were set to 37046037: 30250212 :
Hereditary neuropathy or pain disorder v5.67 FDXR Arina Puzriakova Phenotypes for gene: FDXR were changed from optic neuropathy; auditory neuropathy; peripheral neuropathy to Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887
Hereditary neuropathy or pain disorder v5.19 FDXR Alexander Rossor gene: FDXR was added
gene: FDXR was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: FDXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDXR were set to 37046037: 30250212 :
Phenotypes for gene: FDXR were set to optic neuropathy; auditory neuropathy; peripheral neuropathy
Penetrance for gene: FDXR were set to Complete
Review for gene: FDXR was set to GREEN
Added comment: Sources: Expert list