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  3. IGF1
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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

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Philip Murray (University of Manchester)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

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.
Created: 10 May 2016, 9:15 a.m.

Panel version: 0.214

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

Created: 22 Oct 2015, 2:36 p.m.

Panel version: 0

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
  • Insulin-like growth factor I deficiency, OMIM:608747
OMIM
147440
Clinvar variants
Variants in IGF1
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Apr 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: IGF1 were changed from Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747; Insulin-Like Growth Factor I Deficiency to Insulin-like growth factor I deficiency, OMIM:608747

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