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Prepair 1000+

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 6 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

A severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time. Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Established gene disease association. At least 8 families reported. Animal model present.
Created: 14 Oct 2024, 4:52 a.m. | Last Modified: 14 Oct 2024, 4:52 a.m.
Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 17, primary, autosomal recessive MIM#617090

Publications

Created: 14 Oct 2024, 4:52 a.m.
Last Modified: 14 Oct 2024, 4:52 a.m.
Panel version: 1.420

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 17, primary, autosomal recessive, 617090 (3)
OMIM
605629
Clinvar variants
Variants in CIT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: cit has been classified as Green List (High Evidence).

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: CIT were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CIT was added gene: CIT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CIT were set to Microcephaly 17, primary, autosomal recessive, 617090 (3)