Severe microcephaly

Gene: IGF1R

Green List (high evidence)

IGF1R (insulin like growth factor 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000140443
EnsemblGeneIds (GRCh37): ENSG00000140443
OMIM: 147370, Gene2Phenotype
IGF1R is in 10 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Confirmed DD on G2P. Small but significant number of reported cases
11 Jan 2017, 4:55 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Insulin-like growth factor I, resistance to 270450

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Insulin-like growth factor I, resistance to 270450
OMIM
147370
Clinvar variants
Variants in IGF1R
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

11 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

11 Jan 2017, Gel status: 3

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for IGF1R were set to Insulin-like growth factor I, resistance to 270450

11 Jan 2017, Gel status: 3

Set publications

Alice Gardham (Genomics England)

Publications for IGF1R were set to 14657428; 25040157

11 Jan 2017, Gel status: 3

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for IGF1R was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

11 Jan 2017, Gel status: 3

Upload gene information

Alice Gardham (Genomics England)

IGF1R was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

IGF1R was created by rfoulger

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

IGF1R was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list