Growth failure in early childhood
Gene: IGF1
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that IGF1 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: IGF1Created: 14 May 2019, 1:25 p.m.
Phenotypes
IGF1
Phenotypes for gene: IGF1 were changed from Insulin-Like Growth Factor I Deficiency; Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747; IGF1 to Insulin-like growth factor I deficiency, OMIM:608747
Source Expert list was added to IGF1. Added phenotypes IGF1 for gene: IGF1
gene: IGF1 was added gene: IGF1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGF1 were set to Insulin-Like Growth Factor I Deficiency; Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747