Inherited white matter disorders
Gene: ERCC6Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. It is a confirmed DD gene for COCKAYNE SYNDROME TYPE B, UV-SENSITIVE SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1, and DE SANCTIS-CACCHIONE SYNDROME. More than 3 cases with different variants reported in OMIM for Cockayne syndrome. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 Cockayne syndrome; UV-sensitive syndrome.Created: 16 Aug 2016, 10:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Phenotypes for ERCC6 were set to Cockayne syndrome; UV-sensitive syndrome;General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications for ERCC6 were set to 25655951
This gene has been classified as Green List (High Evidence).
ERCC6 was added to Inherited white matter disorderspanel. Sources: Expert list
ERCC6 was created by [email protected]