This Panel is marked as Internal
Dystonia - childhood onset
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
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dystonia
- OMIM
- 609413
- Clinvar variants
- Variants in ERCC6
- Penetrance
- None
- Panels with this gene
-
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intracerebral calcification disorders
- Childhood onset dystonia, chorea or related movement disorder
- Severe microcephaly
- Adult onset neurodegenerative disorder
- Intellectual disability
- Inherited white matter disorders
- Monogenic short stature
- Retinal disorders
- Arthrogryposis
- Structural eye disease
- Fetal anomalies
- Osteogenesis imperfecta
- Early onset dystonia
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Adult onset dystonia, chorea or related movement disorder
- Bilateral congenital or childhood onset cataracts
- Hereditary neuropathy or pain disorder
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Anophthalmia or microphthalmia
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: ERCC6 was added gene: ERCC6 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: ERCC6 was set to Unknown Phenotypes for gene: ERCC6 were set to Dystonia