Hereditary neuropathy or pain disorder

Gene: ERCC8

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.

Panel Version: 6.148

ERCC8 variants have been associated with Cockayne syndrome, type A (OMIM:216400) and as definitive G2P gene for the same condition. At least six ERCC8 variants have been reported in at least five unrelated cases of OMIM:216400 (PMID: 7664335;9338586;21108394;14661080;15744458;25453614).

Created: 4 Nov 2024, 4:56 p.m. | Last Modified: 4 Nov 2024, 4:56 p.m.

Panel Version: 6.71

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

I don't know

Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Broader phenotype - Cockayne syndrome

Created: 6 Dec 2019, 7:54 p.m. | Last Modified: 6 Dec 2019, 7:54 p.m.

Panel Version: 0.51

Comment on list classification: 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, 7:53 p.m. | Last Modified: 6 Dec 2019, 7:53 p.m.

Panel Version: 0.51

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.

Green List (high evidence)

now that R78 includes complex phenotypes sould be included

Created: 20 Oct 2024, 9:44 a.m. | Last Modified: 20 Oct 2024, 9:44 a.m.

Panel Version: 5.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities

Publications

• 25453614