Silver Russell syndromeGene: IGF1R
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that IGF1R should be included on the panel. Therefore kept rating as Green.
Created: 30 May 2019, 9:34 a.m.
This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: 15q-Del
Created: 14 May 2019, 1:25 p.m.
IGF1R was added to Silver Russell syndromepanel. Sources: Literature,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
IGF1R was created by sleigh