Growth failure in early childhood
Gene: 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-DelCreated: 14 May 2019, 1:25 p.m.
Phenotypes
15q-Del
Phenotypes for gene: IGF1R were changed from Insulin-Like Growth Factor I Resistance; Insulin likegrowthfactorI,resistanceto,270450; 15q-Del to Insulin-like growth factor I, resistance to, OMIM:270450
Source Expert list was added to IGF1R. Added phenotypes 15q-Del for gene: IGF1R
gene: IGF1R was added gene: IGF1R was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: IGF1R were set to Insulin likegrowthfactorI,resistanceto,270450; Insulin-Like Growth Factor I Resistance