White matter disorders and cerebral calcification - narrow panel
Gene: ERCC8EnsemblGeneIds (GRCh38): ENSG00000049167
EnsemblGeneIds (GRCh37): ENSG00000049167
OMIM: 609412, Gene2Phenotype
ERCC8 is in 18 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- PMID: 26204423
- UV-sensitive syndrome
- Cockayne syndrome phenotype and UV-sensitive syndrome
- Cockayne syndrome, type A
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Cockayne Syndrome
- OMIM
- 609412
- Clinvar variants
- Variants in ERCC8
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Hereditary neuropathy
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- DDG2P
- Inherited white matter disorders
- Monogenic short stature
- Osteogenesis imperfecta
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Structural eye disease
- Arthrogryposis
- Fetal anomalies
- Severe microcephaly
- Hereditary neuropathy or pain disorder
- White matter disorders and cerebral calcification - narrow panel
- Anophthalmia or microphthalmia
- Intellectual disability
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cockayne Syndrome; UV-sensitive syndrome for gene: ERCC8 Publications for gene ERCC8 were changed from 26204423 to 25655951
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)gene: ERCC8 was added gene: ERCC8 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green 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 phenotype and UV-sensitive syndrome; PMID: 26204423; Cockayne syndrome, type A Mode of pathogenicity for gene: ERCC8 was set to Other - please provide details in the comments