Severe microcephaly

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

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

Alice Gardham (Genomics England)

Green List (high evidence)

Confirmed DD on G2P
Created: 11 Jan 2017, 4:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Growth retardation with deafness and mental retardation due to IGF1 deficiency 608747

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Other
Phenotypes
  • Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747
  • MPD
  • microcephalic primordial dwarfism
OMIM
147440
Clinvar variants
Variants in IGF1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to IGF1.

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 publications

Alice Gardham (Genomics England)

Publications for IGF1 were set to 8857020

11 Jan 2017, Gel status: 3

Upload gene information

Alice Gardham (Genomics England)

IGF1 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

Added New Source

Rebecca Foulger (Genomics England curator)

IGF1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Expert list

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

IGF1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

IGF1 was created by rfoulger