Inherited white matter disorders
Gene: ERCC2
ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)
EnsemblGeneIds (GRCh38): ENSG00000104884
EnsemblGeneIds (GRCh37): ENSG00000104884
OMIM: 126340, Gene2Phenotype
ERCC2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000104884
EnsemblGeneIds (GRCh37): ENSG00000104884
OMIM: 126340, Gene2Phenotype
ERCC2 is in 16 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 1:02 p.m.
Zornitza Stark (Australian Genomics)
White matter abnormalities are part of the phenotype.Created: 23 Jul 2018, 11:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- MIM#601675
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- OMIM
- 126340
- Clinvar variants
- Variants in ERCC2
- Penetrance
- None
- Publications
-
- MIM#601675
- Panels with this gene
-
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Inherited white matter disorders
- COVID-19 research
- Bilateral congenital or childhood onset cataracts
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- White matter disorders and cerebral calcification - narrow panel
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
- Intellectual disability
History Filter Activity
19 Dec 2018, Gel status: 1
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ercc2 has been classified as Red List (Low Evidence).
23 Jul 2018, Gel status: 0
Added New Source
Zornitza Stark (Australian Genomics)ERCC2 was added to Inherited white matter disorders panel. Sources: Literature
23 Jul 2018, Gel status: 0
Created
Zornitza Stark (Australian Genomics)ERCC2 was created by Zornitza Stark