Hereditary neuropathy or pain disorder
Gene: ERCC6EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 23 panels
3 reviews
Sarah Leigh (Genomics England Curator)
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
ERCC6 variants have been associated with Cockayne syndrome, type B, OMIM:133540 and as definitive G2P gene for the same condition. At least eight ERCC6 variants have been reported in at least eight unrelated cases (PMID: 25453614;9443879;10767341;9777763;18446857).Created: 4 Nov 2024, 4:33 p.m. | Last Modified: 4 Nov 2024, 4:33 p.m.
Panel Version: 6.68
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Louise Daugherty (Genomics England Curator)
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 syndromeCreated: 6 Dec 2019, 7:52 p.m. | Last Modified: 6 Dec 2019, 7:52 p.m.
Panel Version: 0.50
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, 7:40 p.m. | Last Modified: 6 Dec 2019, 7:40 p.m.
Panel Version: 0.50
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)
now that R78 includes complex pheotypes should be includedCreated: 20 Oct 2024, 9:43 a.m. | Last Modified: 20 Oct 2024, 9:43 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
- Phenotypes
-
- Cockayne syndrome, type B, OMIM:133540
- Cockayne syndrome type 2, MONDO:0019570
- OMIM
- 609413
- Clinvar variants
- Variants in ERCC6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Retinal disorders
- DDG2P
- Fetal anomalies
- Intracerebral calcification disorders
- Inherited white matter disorders
- Monogenic short stature
- Osteogenesis imperfecta
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Structural eye disease
- Arthrogryposis
- Severe microcephaly
- White matter disorders and cerebral calcification - narrow panel
- Anophthalmia or microphthalmia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: ERCC6. Tag Q3_24_NHS_review was removed from gene: ERCC6.
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to ERCC6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: ERCC6. Tag Q3_24_NHS_review tag was added to gene: ERCC6.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ERCC6 were set to 25453614
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ERCC6 were set to
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ERCC6 were changed from Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Cockayne syndrome, type B, 133540 to Cockayne syndrome, type B, OMIM:133540; Cockayne syndrome type 2, MONDO:0019570
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: ercc6 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ERCC6 was added gene: ERCC6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities; Cockayne syndrome, type B, 133540