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Hereditary neuropathy NOT PMP22 copy number

Gene: XRCC1

Amber List (moderate evidence)

XRCC1 (X-ray repair cross complementing 1)
EnsemblGeneIds (GRCh38): ENSG00000073050
EnsemblGeneIds (GRCh37): ENSG00000073050
OMIM: 194360, Gene2Phenotype
XRCC1 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope but limited evidence / Broader phenotype: SCA26, 2 cases in OMIM
Created: 7 Dec 2019, 12:03 a.m. | Last Modified: 7 Dec 2019, 12:03 a.m.
Panel Version: 0.86
This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) 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, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 10:25 p.m. | Last Modified: 6 Dec 2019, 10:25 p.m.
Panel Version: 0.84
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.

Alexander Rossor (UCL Institute of Neurology)

I don't know

Only two families
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633
OMIM
194360
Clinvar variants
Variants in XRCC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jun 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: XRCC1 were changed from Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy; Spinocerebellar ataxia, autosomal recessive 26, 617633 to Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633

6 Dec 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to XRCC1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

5 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: XRCC1 was added gene: XRCC1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC1 were set to 29472272; 28002403 Phenotypes for gene: XRCC1 were set to Ataxia, developmental delay, azoospermia and hypogonadism, myotonia, sensory and motor axonal neuropathy; Spinocerebellar ataxia, autosomal recessive 26, 617633