Arthrogryposis
Gene: ERCC8EnsemblGeneIds (GRCh38): ENSG00000049167
EnsemblGeneIds (GRCh37): ENSG00000049167
OMIM: 609412, Gene2Phenotype
ERCC8 is in 18 panels
1 review
Alice Gardham (Genomics England)
Arthrogryposis seen in severe Cockayne syndromeCreated: 5 Jan 2017, 2:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome, type A 216400
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cockayne syndrome, type A 216400
- OMIM
- 609412
- Clinvar variants
- Variants in ERCC8
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Severe microcephaly
- Structural eye disease
- Inherited white matter disorders
- Monogenic short stature
- Arthrogryposis
- Retinal disorders
- Osteogenesis imperfecta
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Hereditary neuropathy or pain disorder
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Anophthalmia or microphthalmia
History Filter Activity
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Alice Gardham (Genomics England)ERCC8 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Alice Gardham (Genomics England)ERCC8 was created by agardham
Added New Source
Alice Gardham (Genomics England)ERCC8 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Literature