Syndromic Retinopathy
Gene: ERCC8EnsemblGeneIds (GRCh38): ENSG00000049167
EnsemblGeneIds (GRCh37): ENSG00000049167
OMIM: 609412, Gene2Phenotype
ERCC8 is in 21 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 20 Apr 2021, 10:11 a.m. | Last Modified: 20 Apr 2021, 10:11 a.m.
Panel Version: 0.7232
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome, type A, MIM# 216400; MONDO:0019569; UV-sensitive syndrome 2, MIM# 614621; MONDO:0013829
Publications
Bryony Thompson (Royal Melbourne Hospital)
Retinal dystrophy was reported as a feature of the condition in 43% of cases in a cohort of 108 individuals in 81 families. Genetic confirmation of CS was available in 40 pedigrees: ERCC6 mutations were found in 28 (70%), ERCC8 mutations in 11 (27.5%).
Sources: LiteratureCreated: 21 May 2020, 6:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome, type A MIM#216400
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Literature
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cockayne syndrome, type A MIM#216400
- OMIM
- 609412
- Clinvar variants
- Variants in ERCC8
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Prepair 1000+
- Microcephaly
- Hereditary Neuropathy - complex
- Brain Calcification
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Lipodystrophy_Lipoatrophy
- Arthrogryposis
- Mendeliome
- Photosensitivity Syndromes
- Cataract
- Syndromic Retinopathy
- Prepair 500+
- Growth failure
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ercc8 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ercc8 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ERCC8 was added gene: ERCC8 was added to Syndromic Retinopathy. Sources: Literature Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC8 were set to 26204423 Phenotypes for gene: ERCC8 were set to Cockayne syndrome, type A MIM#216400 Review for gene: ERCC8 was set to GREEN