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
-
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- DDG2P
- Intracerebral calcification disorders
- Inherited white matter disorders
- Monogenic short stature
- Osteogenesis imperfecta
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Early onset dystonia
- 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
- Childhood onset dystonia, chorea or related movement disorder
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