Growth failure in early childhoodGene: CENPJ
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. Seckel syndrome is distinguishable due to marked microcephaly and therefore would be investigated under severe microcephaly R88. Therefore demoted gene from Green to Red.
Created: 30 May 2019, 9:49 a.m.
Source Expert Review Red was added to CENPJ. Rating Changed from Green List (high evidence) to Red List (low evidence)
gene: CENPJ was added gene: CENPJ was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPJ were set to 20522431 Phenotypes for gene: CENPJ were set to seckel syndrome