Growth failure in early childhood
Gene: IGF1EnsemblGeneIds (GRCh38): ENSG00000017427
EnsemblGeneIds (GRCh37): ENSG00000017427
OMIM: 147440, Gene2Phenotype
IGF1 is in 9 panels
2 reviews
Rebecca Foulger (Genomics England curator)
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.
Ivone Leong (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Insulin-like growth factor I deficiency, OMIM:608747
- OMIM
- 147440
- Clinvar variants
- Variants in IGF1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source Expert list was added to IGF1. Added phenotypes IGF1 for gene: IGF1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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