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Hereditary neuropathy v1.500 RCC1 Arina Puzriakova Phenotypes for gene: RCC1 were changed from axonal neuropathy; encephalopathy; infection-induced neuropathy to Severe, acute-onset axonal neuropathy following infection
Hereditary neuropathy v1.499 RCC1 Arina Puzriakova Publications for gene: RCC1 were set to PMID: 40683276
Hereditary neuropathy v1.498 RCC1 Arina Puzriakova Classified gene: RCC1 as Green List (high evidence)
Hereditary neuropathy v1.498 RCC1 Arina Puzriakova Added comment: Comment on list classification: Rating Green on this 100K panel as there is a sufficient number of unrelated cases with the same phenotype and functional data to support this gene-disease association.

At least 12 unrelated families reported (PMID: 40683276) with biallelic variants in this gene associated with severe, acute-onset axonal neuropathy following infection. Eight different missense variants were identified. In vitro studies indicate that variants reduced the thermal stability of the RCC1 protein and some variants decreased GDP-to-GTP exchange activity. Patient fibroblasts under stress, revealed defects in Ran nuclear localisation and impaired nucleocytoplasmic transport. A Drosophila model demonstrated that altered Rcc1 function leads to fatal intolerance to oxidative stress.
Hereditary neuropathy v1.498 RCC1 Arina Puzriakova Gene: rcc1 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.497 RCC1 Bill Newman gene: RCC1 was added
gene: RCC1 was added to Hereditary neuropathy. Sources: Expert list
Mode of inheritance for gene: RCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RCC1 were set to PMID: 40683276
Phenotypes for gene: RCC1 were set to axonal neuropathy; encephalopathy; infection-induced neuropathy
Penetrance for gene: RCC1 were set to Complete
Review for gene: RCC1 was set to GREEN
Added comment: We have just described 12 families withbiallelic hylomorphic variants in this gene associated with acute onset axonal neuropathy mimicking Guillain Barre syndrome (ie post infective onset)
Sources: Expert list
Hereditary neuropathy v1.386 XRCC1 Arina Puzriakova Phenotypes for gene: XRCC1 were changed from Spinocerebellar ataxia, autosomal recessive 26, 617633; Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy to Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633
Hereditary neuropathy v1.353 XRCC1 Louise Daugherty Source Expert Review Amber was added to XRCC1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy v1.352 XRCC1 Louise Daugherty commented on gene: XRCC1: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Hereditary neuropathy v1.331 XRCC1 Alexander Rossor edited their review of gene: XRCC1: Added comment: Only two families; Changed rating: AMBER; Changed publications: 29472272, 28002403
Hereditary neuropathy v1.300 XRCC1 Louise Daugherty commented on gene: XRCC1: Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary neuropathy v1.300 XRCC1 Louise Daugherty reviewed gene: XRCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.131 XRCC1 Louise Daugherty Phenotypes for gene: XRCC1 were changed from Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy to Spinocerebellar ataxia, autosomal recessive 26, 617633; Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy
Hereditary neuropathy v1.124 XRCC1 Louise Daugherty Phenotypes for gene: XRCC1 were changed from to Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy
Hereditary neuropathy v1.123 XRCC1 Louise Daugherty Publications for gene: XRCC1 were set to
Hereditary neuropathy v1.122 XRCC1 Louise Daugherty Mode of inheritance for gene: XRCC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.121 XRCC1 Alexander Rossor reviewed gene: XRCC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29472272, 28002403; Phenotypes: Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.119 XRCC1 Louise Daugherty Source NHS GMS was added to XRCC1.
Hereditary neuropathy v1.118 XRCC1 Louise Daugherty gene: XRCC1 was added
gene: XRCC1 was added to Hereditary neuropathy. Sources: London North GLH
Mode of inheritance for gene: XRCC1 was set to