Severe microcephaly
Gene: STIL
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
Comment when marking as ready: Expert list. Probable DD on G2P. Many cases reportedCreated: 12 Jan 2017, 10:47 a.m.
Source NHS GMS was added to STIL.
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 STIL were set to 25218063
STIL was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN
STIL was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen
STIL was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other
STIL was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene STIL was set to BIALLELIC, autosomal or pseudoautosomal
STIL was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list
STIL was created by rfoulger