Severe microcephaly
Gene: CITEnsemblGeneIds (GRCh38): ENSG00000122966
EnsemblGeneIds (GRCh37): ENSG00000122966
OMIM: 605629, Gene2Phenotype
CIT is in 4 panels
3 reviews
Louise Daugherty (Genomics England Curator)
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
Alice Gardham (Genomics England)
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
Rebecca Foulger (Genomics England curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Other
- Literature
- Phenotypes
-
- autosomal-recessive primary microcephaly
- MCPH
- Microcephaly 17, primary, autosomal recessive, 617090
- OMIM
- 605629
- Clinvar variants
- Variants in CIT
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CIT.
panel promoted to version 1
Rebecca Foulger (Genomics England curator)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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)CIT was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other
Added New Source
Rebecca Foulger (Genomics England curator)CIT was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature
Created
Rebecca Foulger (Genomics England curator)CIT was created by rfoulger