Inherited white matter disorders
Gene: ERCC6EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 23 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. It is a confirmed DD gene for COCKAYNE SYNDROME TYPE B, UV-SENSITIVE SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1, and DE SANCTIS-CACCHIONE SYNDROME. More than 3 cases with different variants reported in OMIM for Cockayne syndrome. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 Cockayne syndrome; UV-sensitive syndrome.Created: 16 Aug 2016, 10:11 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_637
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cockayne syndrome
- UV-sensitive syndrome
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- OMIM
- 609413
- Clinvar variants
- Variants in ERCC6
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Anophthalmia or microphthalmia
- Childhood onset dystonia, chorea or related movement disorder
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- DDG2P
- Intracerebral calcification disorders
- Intellectual disability
- Inherited white matter disorders
- Monogenic short stature
- Osteogenesis imperfecta
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Early onset dystonia
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Structural eye disease
- Arthrogryposis
- Fetal anomalies
- Severe microcephaly
- Hereditary neuropathy or pain disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ERCC6 were set to Cockayne syndrome; UV-sensitive syndrome;General Leukodystrophy & Mitochondrial Leukoencephalopathy
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ERCC6 were set to 25655951
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ian Berry (Leeds Genetics Laboratory)ERCC6 was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)ERCC6 was created by [email protected]