Arthrogryposis
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
Alice Gardham (Genomics England)
Comment when marking as ready: Cockayne syndrome known to be associated with arthrogryposisCreated: 21 Dec 2016, 4:04 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Cockayne syndrome, type B 133540
- OMIM
- 609413
- Clinvar variants
- Variants in ERCC6
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Retinal disorders
- DDG2P
- Intracerebral calcification disorders
- Inherited white matter disorders
- Monogenic short stature
- Osteogenesis imperfecta
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Structural eye disease
- Arthrogryposis
- Fetal anomalies
- Severe microcephaly
- White matter disorders and cerebral calcification - narrow panel
- Anophthalmia or microphthalmia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
16 Jan 2017, Gel status: 4
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
21 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
21 Dec 2016, Gel status: 3
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for ERCC6 were set to Cockayne syndrome, type B 133540
21 Dec 2016, Gel status: 3
Upload gene information
Alice Gardham (Genomics England)ERCC6 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
21 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ERCC6 was added to Arthrogryposispanel. Sources: Expert list
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ERCC6 was created by ellenmcdonagh