Anophthalmia or microphthalmia
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
2 reviews
David FitzPatrick (University of Edinburgh)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Known expert reviewCreated: 10 May 2016, 11:38 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Cerebrooculofacioskeletal Syndrome
- Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980
- 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
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
28 Apr 2015, Gel status: 3
Added New Source
GEL ()ERCC6 was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen
28 Apr 2015, Gel status: 2
Added New Source
GEL ()ERCC6 was added to Anophthalmia/microphthalmiapanel. Sources: UKGTN
28 Apr 2015, Gel status: 1
Added New Source
GEL ()ERCC6 was added to Anophthalmia/microphthalmiapanel. Sources: Illumina TruGenome Clinical Sequencing Services