Severe microcephaly

Gene: CIT

Green List (high evidence)

CIT (citron rho-interacting serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000122966
EnsemblGeneIds (GRCh37): ENSG00000122966
OMIM: 605629, Gene2Phenotype
CIT is in 4 panels

2 reviews

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations identified in multiple families and evidence supported by mouse model
Created: 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
  • 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

2 Mar 2017, Gel status: 4

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.

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CIT was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CIT was created by rfoulger

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CIT was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature