Growth failure in early childhoodGene: ERCC6
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. The DNA repair disorders XP, Trichothiodystrophy and Cockayne syndrome have a recognisable phenotype and are covered by a separate clinical indication. Therefore demoted gene from Green to Red.
Created: 30 May 2019, 9:49 a.m.
Source Expert Review Red was added to ERCC6. Rating Changed from Green List (high evidence) to Red List (low evidence)
gene: ERCC6 was added gene: ERCC6 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540