This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
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
1 review
Emily Jones (North Bristol NHS Trust)
Individuals with Cockayne Syndrome can have ataxia/tremor, but would present with severe growth failure/FTT.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- South West GLH
- Phenotypes
-
- Dystonia
- OMIM
- 609413
- Clinvar variants
- Variants in ERCC6
- Penetrance
- None
- Panels with this gene
-
- Anophthalmia or microphthalmia
- Bilateral congenital or childhood onset cataracts
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intracerebral calcification disorders
- White matter disorders and cerebral calcification - narrow panel
- DDG2P
- Fetal anomalies
- Intellectual disability
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Structural eye disease
- Retinal disorders
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Osteogenesis imperfecta
- Monogenic short stature
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Childhood onset dystonia, chorea or related movement disorder
- Severe microcephaly
- Hereditary neuropathy
- Arthrogryposis
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
9 Jul 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene ERCC6 was changed from to Unknown Added phenotypes Dystonia for gene: ERCC6
2 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to ERCC6.
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: ERCC6 was added gene: ERCC6 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: ERCC6 was set to