White matter disorders and cerebral calcification - childhood onset
Gene: XPC
XPC (XPC complex subunit, DNA damage recognition and repair factor)
EnsemblGeneIds (GRCh38): ENSG00000154767
EnsemblGeneIds (GRCh37): ENSG00000154767
OMIM: 613208, Gene2Phenotype
XPC is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000154767
EnsemblGeneIds (GRCh37): ENSG00000154767
OMIM: 613208, Gene2Phenotype
XPC is in 11 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Xeroderma pigmentosum, group C, 278720
- OMIM
- 613208
- Clinvar variants
- Variants in XPC
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- White matter disorders and cerebral calcification - childhood onset
- Anophthalmia or microphthalmia
- Adult solid tumours cancer susceptibility
- Intellectual disability
- Fetal anomalies
- Monogenic hearing loss
- Structural eye disease
- Childhood solid tumours
- DDG2P
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
History Filter Activity
8 Jan 2019, Gel status: 4
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
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: XPC was added gene: XPC was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPC were set to 27413738 Phenotypes for gene: XPC were set to Xeroderma pigmentosum, group C, 278720