Hereditary neuropathy
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.Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
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.Created: 11 Jun 2019, 1:40 p.m.
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.Created: 11 Jun 2019, 1:40 p.m.
Only two familiesCreated: 21 Jun 2019, 2:30 p.m. | Last Modified: 21 Jun 2019, 2:30 p.m.
Panel Version: 1.331
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy.
Publications
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
Source Expert Review Amber was added to XRCC1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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
Phenotypes for gene: XRCC1 were changed from to Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy
Publications for gene: XRCC1 were set to
Mode of inheritance for gene: XRCC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to XRCC1.
gene: XRCC1 was added gene: XRCC1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: XRCC1 was set to