Severe microcephalyGene: ANKLE2
As discussed with the GMS Neurology Specialist Test Group webex call 11thJuly 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Only reported in one family
Created: 12 Jan 2017, 11:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
?Microcephaly 16, primary, autosomal recessive 616681
Source NHS GMS was added to ANKLE2.
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 Red List (Low Evidence).
Publications for ANKLE2 were set to 25259927
ANKLE2 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
ANKLE2 was created by rfoulger