Severe microcephalyGene: IGF1
Confirmed DD on G2P
11 Jan 2017, 4:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Growth retardation with deafness and mental retardation due to IGF1 deficiency 608747
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