Hereditary Neuropathy - complex
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)
Progressive neuropathy is a feature of CS.Created: 24 Jul 2023, 8:34 a.m. | Last Modified: 24 Jul 2023, 8:34 a.m.
Panel Version: 0.178
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome, type A MIM#216400
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease association with progressive neuropathy a feature in individuals with Cockayne Syndrome.
PMID: 29422660
In vitro minigene assay was conducted to test the splice effect of c.173+1119G>C which showed the introduction of a premature termination codon at the end of exon resulting in loss of function of the ERCC8 protein.Created: 14 Aug 2023, 11:50 p.m. | Last Modified: 14 Aug 2023, 11:50 p.m.
Panel Version: 0.274
No established gene-disease association
PMID: 4320535
Showed the presence of peripheral neuropathy in an individual with Cockayne's syndrome however no genetic testing was conducted.Created: 6 Jul 2023, 5:18 a.m. | Last Modified: 6 Jul 2023, 5:18 a.m.
Panel Version: 0.166
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
- Royal Melbourne Hospital
- Phenotypes
-
- Cockayne syndrome, type A MIM#216400
- OMIM
- 609412
- Clinvar variants
- Variants in ERCC8
- Penetrance
- None
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ercc8 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ERCC8 were changed from Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities to Cockayne syndrome, type A MIM#216400
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ERCC8 was added gene: ERCC8 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC8 were set to Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities