Severe microcephaly
Gene: IGF1
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 GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Confirmed DD on G2PCreated: 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
Phenotypes for gene: IGF1 were changed from Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747; MPD; microcephalic primordial dwarfism to Insulin-like growth factor I deficiency, OMIM:608747; Microcephalic primordial dwarfism
Source NHS GMS was added to IGF1.
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.
This gene has been classified as Green List (High Evidence).
Publications for IGF1 were set to 8857020
IGF1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
IGF1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Expert list
IGF1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
IGF1 was created by rfoulger