Severe microcephalyGene: DIAPH1
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
Comment on list classification: Updated rating from Amber to Red based on advice from Adrianna Tucci: 3 unrelated human cases.
Created: 2 Mar 2017, 3:52 p.m.
Comment on list classification: Updated rating from Red to Amber: 3 separate cases of DIAPH1 mutations causing microcephaly, but reported mouse models don't exhibit microcephaly.
Created: 17 Jan 2017, 1:46 p.m.
3 cases reported in OMIM of DIAPH1 mutations linked to Seizures, cortical blindness, microcephaly syndrome (SCBMS, OMIM:616632) all from consanguineous Arab or Saudi Arabian parents. Note that mouse models don't exhibit microcephaly.
Created: 16 Jan 2017, 1:48 p.m.
Source NHS GMS was added to DIAPH1.
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).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for gene DIAPH1 were set to microcephaly, blindness and early onset seizures; severe visual impairment, intellectual disability, and short stature; Seizures, cortical blindness, microcephaly syndrome, 616632
DIAPH1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature
DIAPH1 was created by ellenmcdonagh