Severe microcephaly
Gene: CIT
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
Mutations identified in multiple families and evidence supported by mouse modelCreated: 12 Jan 2017, 11:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 17, primary, autosomal recessive 617090
Publications
PMID:27453578 (Li et al., 2016) report homozygous missense mutations in CIT in three families with primary microcephaly.Created: 13 Dec 2016, 10:51 a.m.
Source NHS GMS was added to CIT.
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 Green List (High Evidence).
CIT was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other
CIT was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature
CIT was created by rfoulger