Early onset dystonia
Gene: ERCC6
ERCC6 (ERCC excision repair 6, chromatin remodeling factor)
EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 23 panels
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Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 609413
- Clinvar variants
- Variants in ERCC6
- Penetrance
- Complete
- Panels with this gene
-
- White matter disorders and cerebral calcification - childhood onset
- Fetal anomalies
- Anophthalmia or microphthalmia
- Intracerebral calcification disorders
- Dystonia, chorea or related movement disorder, adult onset
- Osteogenesis imperfecta
- Monogenic short stature
- Hereditary neuropathy or pain disorder
- Inherited white matter disorders
- Neurodegenerative disorders, adult onset
- DDG2P
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intellectual disability
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Structural eye disease
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Severe microcephaly
- Arthrogryposis
- Retinal disorders
- Bilateral congenital or childhood onset cataracts
History Filter Activity
17 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
28 Apr 2015, Gel status: 1
Added New Source
GEL ()ERCC6 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory