IUGR and IGF abnormalities
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
5 reviews
Mehul Dattani (UCL Institute of Child Health)
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: added missing phenotypeCreated: 22 Sep 2017, 9:41 a.m.
emma baple (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Cockayne syndrome, type B, 133540
- OMIM
- 609413
- Clinvar variants
- Variants in ERCC6
- Penetrance
- Complete
- Panels with this gene
-
- Anophthalmia or microphthalmia
- Intracerebral calcification disorders
- Dystonia, chorea or related movement disorder, adult onset
- Osteogenesis imperfecta
- Monogenic short stature
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Inherited white matter disorders
- Neurodegenerative disorders, adult onset
- DDG2P
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Structural eye disease
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Retinal disorders
- Bilateral congenital or childhood onset cataracts
- Severe microcephaly
- Arthrogryposis
- White matter disorders and cerebral calcification - childhood onset
- Fetal anomalies
History Filter Activity
22 Sep 2017, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for ERCC6 were set to Cockayne syndrome, type B, 133540
24 Aug 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ERCC6 was changed to BIALLELIC, autosomal or pseudoautosomal
14 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
14 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
14 Mar 2016, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()ERCC6 was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory