Severe microcephaly
Gene: IGF1R

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.

Panel Version: 1.62

Created: 29 Jul 2019, 4:18 p.m.
Last Modified: 29 Jul 2019, 4:18 p.m.
Panel version: 1.62

Alice Gardham (Genomics England)

Green List (high evidence)

Confirmed DD on G2P. Small but significant number of reported cases
Created: 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

Created: 11 Jan 2017, 4:55 p.m.

Panel version: 0.35

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory
Expert list

Phenotypes

Insulin-like growth factor I, resistance to, OMIM:270450

OMIM

147370

Clinvar variants

Variants in IGF1R

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: IGF1R were changed from Insulin-like growth factor I, resistance to 270450 to Insulin-like growth factor I, resistance to, OMIM:270450

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to IGF1R.

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