White matter disorders and cerebral calcification - narrow panel
Gene: ERCC6EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 23 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- De Sanctis-Cacchione syndrome
- PMID: 26204423
- Cockayne syndrome
- UV-sensitive syndrome
- Cockayne syndrome phenotype and UV-sensitive syndrome
- Cockayne syndrome B
- UV-sensitive syndrome 1
- Intercranial Calcifications
- Cockayne syndrome, type B
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- OMIM
- 609413
- Clinvar variants
- Variants in ERCC6
- Penetrance
- None
- Publications
-
- PMID: 7063265
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Severe microcephaly
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Intracerebral calcification disorders
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Inherited white matter disorders
- Fetal anomalies
- Structural eye disease
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Osteogenesis imperfecta
- Early onset dystonia
- IUGR and IGF abnormalities
- Hydroa vacciniforme
- Adult onset dystonia, chorea or related movement disorder
- Monogenic short stature
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Arthrogryposis
- Anophthalmia or microphthalmia
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 Intercranial Calcifications for gene: ERCC6 Publications for gene ERCC6 were changed from 26204423; 26749132 to PMID: 7063265
Set mode of pathogenicity, Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for gene ERCC6 was changed from to Other - please provide details in the comments Added phenotypes De Sanctis-Cacchione syndrome; PMID: 26204423; Cockayne syndrome phenotype and UV-sensitive syndrome; Cockayne syndrome B; UV-sensitive syndrome 1; Cockayne syndrome, type B for gene: ERCC6 Publications for gene ERCC6 were changed from 25655951 to 26204423; 26749132
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ERCC6 was added gene: ERCC6 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC6 were set to 25655951 Phenotypes for gene: ERCC6 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Cockayne syndrome; UV-sensitive syndrome