White matter disorders and cerebral calcification - narrow panel
Gene: ERCC2EnsemblGeneIds (GRCh38): ENSG00000104884
EnsemblGeneIds (GRCh37): ENSG00000104884
OMIM: 126340, Gene2Phenotype
ERCC2 is in 16 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Eleanor Williams (Genomics England Curator)
Comment on list classification: Leaving rating as green, but with a recommendation of an amber rating following GMS review. Only one case reported with a white matter abnormality.Created: 6 May 2021, 5:31 p.m. | Last Modified: 6 May 2021, 5:31 p.m.
Panel Version: 1.72
ERCC2 is also called XPD in some publications.
PMID: 29451896 - Ji et al 2018 - 1 patient recruited in a study of patients with development delay and hypomyelination in brain MRI was found to have compound het variants in ERCC2 and a diagnosis of Trichothiodystrophy and a phenotype of ichthyosis at birth, followed by developmental delay. Developmental regression appeared at eight years of age and quadriplegia presented two years after that. Brittle hair and microcephaly was also noted.
Studies reporting more cases of Trichothiodystrophy and variants in ERCC2:
PMID: 9758621 (11 cases abstract only)
PMID: 8571952 (3 cases) - no white matter abnormalities reported
PMID: 11709541 (2 cases of XPD/Trichothiodystrophy) - no white matter abnormalities reported (CAT scan in 1 patient)
PMID: 11443545 (1 case) - a child with COFS syndrome and a variant in XPD. Complex syndromic phenotype with profound growth/developmentally delay and a neurodegenerative phenotype. White matter abnormalities not specifically mentioned.
PMID: 33733458 (1 case) - child with compound het variants in ERCC2 and severe postnatal growth deficiency, microcephaly, facial dysmorphisms and pilocytic astrocytoma of the brainstem. No white matter abnormalities noted.Created: 6 May 2021, 5:28 p.m. | Last Modified: 6 May 2021, 5:28 p.m.
Panel Version: 1.69
Zornitza Stark (Australian Genomics)
Single report only of leukodystrophy associated with ERCC2 variants.Created: 15 Sep 2020, 10:17 a.m. | Last Modified: 15 Sep 2020, 10:17 a.m.
Panel Version: 1.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy 1, photosensitive 601675
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Phenotypes
-
- Trichothiodystrophy 1, photosensitive, OMIM:601675
- OMIM
- 126340
- Clinvar variants
- Variants in ERCC2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- COVID-19 research
- Intellectual disability
- Inherited white matter disorders
- Fetal anomalies
- Structural eye disease
- Childhood solid tumours
- Monogenic hearing loss
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- DDG2P
- Bilateral congenital or childhood onset cataracts
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating was removed from gene: ERCC2.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Amber was added to ERCC2. Source NHS GMS was added to ERCC2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ercc2 has been classified as Green List (High Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: ERCC2 were changed from Xeroderma pigmentosum, group D, 278730; Trichothiodystrophy, 601675 to Trichothiodystrophy 1, photosensitive, OMIM:601675
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: ERCC2 were set to MIM#601675
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating tag was added to gene: ERCC2.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene ERCC2 were changed from to MIM#601675
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ERCC2 was added gene: ERCC2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, group D, 278730; Trichothiodystrophy, 601675