Intracerebral calcification disordersGene: ERCC6
Comment on list classification: Apply the Cockayne syndrome panel to patients with intra-cerebral calcification; no need to add separately.
Created: 19 Dec 2016, 5:06 p.m.
Comment on list classification: Not currently reviewed by external expert. Basal ganglia calcifications are a feature of Cockayne syndrome, type B. This is a green gene on the Cockayne and Xeroderma Pigmentosum-like disorders gene panel (version 1.0), Intellectual disability gene panel (version 1.14) and Inherited white matter disorders gene panel (version 1.0), and a confirmed DD gene for Cockayne Syndrome Type B.
Created: 29 Nov 2016, 1:15 p.m.
19th Dec 2016: panel revised according to expert review and internal curation review.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for ERCC6 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
ERCC6 was added to Intracerebral calcification disorderspanel. Sources: Emory Genetics Laboratory
ERCC6 was created by oniblock