IUGR and IGF abnormalities

Gene: IGF1

Green List (high evidence)

IGF1 (insulin like growth factor 1)
EnsemblGeneIds (GRCh38): ENSG00000017427
EnsemblGeneIds (GRCh37): ENSG00000017427
OMIM: 147440, Gene2Phenotype
IGF1 is in 9 panels

4 reviews

Mehul Dattani (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Philip Murray (University of Manchester)

Green List (high evidence)

emma baple (Genomics England Curator)

Comment when marking as ready: Await further research evidence to determine whether heterozygous mutations also cause this phenotype, currently one supportive reference in one family only PMID: 20668042
Created: 10 May 2016, 9:15 a.m.

Peter Clayton (University of Manchester)

Green List (high evidence)

Rare but well described mutations
Created: 22 Oct 2015, 2:36 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Severe short stature; SGA; deafness, microcephaly; mnetal retardationn

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747
  • Insulin-Like Growth Factor I Deficiency
OMIM
147440
Clinvar variants
Variants in IGF1
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

IGF1 was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

IGF1 was added to IUGR and IGF abnormalitiespanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

IGF1 was added to IUGR and IGF abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen